ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.781-1G>A

dbSNP: rs1644230120
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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 RCV002588344 SCV003494476 pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2022-04-12 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the MTHFR gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MTHFR are known to be pathogenic (PMID: 25736335). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with methylene tetrahydrofolate reductase (MTHFR) deficiency (PMID: 25079578). This variant is also known as IVS5-1G>A. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003459753 SCV004196393 pathogenic Neural tube defects, folate-sensitive 2023-10-25 criteria provided, single submitter clinical testing

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