Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_005957(MTHFR):c.*4058_*4061del 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 Uncertain_significance.
GnomAD3 genomes AF: 0.00AC: 10AN: 111598Hom.: 0Cov.: 30 FAILED QC
Submissions by phenotype
Neural tube defects, folate-sensitive
|Uncertain significance, criteria provided, single submitter||clinical testing||Illumina Laboratory Services, Illumina||Jun 14, 2016||- -|
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