Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_005957(MTHFR):c.*4077_*4078insAA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Verdict is Benign. Variant got -8 ACMG points.
GnomAD3 genomes AF: 0.115AC: 16356AN: 141838Hom.: 1244Cov.: 0 GnomAD4 exome AF: 0.250AC: 1AN: 4Hom.: 0AC XY: 0AN XY: 0
Submissions by phenotype
Neural tube defects, folate-sensitive
|Uncertain significance, criteria provided, single submitter||clinical testing||Illumina Laboratory Services, Illumina||Jun 14, 2016||- -|
Find out SpliceAI and Pangolin per-transcript scores at