Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_005957(MTHFR):c.*702del variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000197 in 152222 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Verdict is Uncertain_significance.
GnomAD3 genomes AF: 0.0000197AC: 3AN: 152222Hom.: 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