ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.476A>G (p.Asp159Gly)

dbSNP: rs1644355976
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001260224 SCV001435289 likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2020-08-24 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 3 of the MTHFR gene that results in the amino acid substitution of Glycine for Aspartic acid at codon 159 was detected. The observed variant c.476A>G (p.Asp159Gly) lies in the methylenetetrahydrofolate reductase domain of the MTHFR protein and has previously been reported at a nearby position (c.474A>T; p.G158G) in a homozygous state, in patients affected with homocystinuria (Ben-Shachar et al. 2012). The variant has not been reported in the 1000 genomes and gnomAD databases. The in silico predictions of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as likely pathogenic.

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