ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.867_868insG (p.Asn290fs)

dbSNP: rs1644227005
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244294 SCV001417503 pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2022-02-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 969038). This variant has not been reported in the literature in individuals affected with MTHFR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn290Glufs*52) in the MTHFR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTHFR are known to be pathogenic (PMID: 25736335).
Baylor Genetics RCV003469468 SCV004196457 likely pathogenic Neural tube defects, folate-sensitive 2023-02-11 criteria provided, single submitter clinical testing

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