chr14-23415251-TC-AT
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM1PM2PM5PP2
The NM_000257.4(MYH7):c.5302_5303delGAinsAT(p.Glu1768Met) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E1768K) has been classified as Pathogenic.
Frequency
Consequence
NM_000257.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Variant classified as Uncertain Significance - Favor Pathogenic. The p.Glu1768Me t (c.5302_5303delinsAT) variant in MYH7 has not been reported in individuals wit h cardiomyopathy. It was absent from large population studies. This variant is a two base pair indel resulting in a single amino acid change. Glutamic acid (Glu ) at position 1768 is highly conserved in mammals and across evolutionarily dist ant species and the change to methionine (Met) was predicted to be pathogenic us ing a computational tool clinically validated by our laboratory. This tool's pat hogenic prediction is estimated to be correct 94% of the time (Jordan 2011). In summary, while there is some suspicion for a pathogenic role of this variant in disease, the clinical significance is uncertain. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at