Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PM2_Supporting
The NM_005957(MTHFR):c.*372_*373insTACC variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. Variant has been reported in ClinVar as Uncertain significance (★).
Verdict is Uncertain_significance. Variant got 1 ACMG points.
GnomAD3 genomesCov.: 33
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 detailed SpliceAI scores and Pangolin per-transcript scores at