chr14-23428508-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP2PP3_Moderate
The NM_000257.4(MYH7):c.1570A>G(p.Ile524Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000257.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Variant classified as Uncertain Significance - Favor Pathogenic. The p.Ile524Val variant in MYH7 has been identified by our laboratory in 1 Caucasian infant wit h DCM. It was absent from large population studies. Isoleucine (Ile) at position 524 is highly conserved in evolution and the change to valine (Val) was predict ed to be pathogenic using a computational tool clinically validated by our labor atory. This tool's pathogenic prediction is estimated to be correct 94% of the t ime (Jordan 2011). In summary, while there is some suspicion for a pathogenic ro le, the clinical significance of the p.Ile524Val variant is uncertain. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at