Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PM2_SupportingBP4_Strong
The NM_005957(MTHFR):c.*1531C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152240 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Verdict is Likely_benign. Variant got -3 ACMG points.
GnomAD3 genomes AF: 0.00000657AC: 1AN: 152240Hom.: 0Cov.: 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