ClinVar Miner

Submissions for variant NM_005957.4(MTHFR):c.1072C>T (p.Arg358Ter) (rs377443637)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538018 SCV000641852 pathogenic Homocysteinemia due to MTHFR deficiency 2018-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg358*) in the MTHFR gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs377443637, ExAC 0.003%). This variant has been reported as homozygous in individuals affected with methylenetetrahydrofolate reductase deficiency (PMID: 9781030, 25736335). This variant is also known as c.1084C>T in the literature. Loss-of-function variants in MTHFR are known to be pathogenic (PMID: 25736335 ). For these reasons, this variant has been classified as Pathogenic.

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