ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1348-1G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV002510619 SCV002820105 likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency criteria provided, single submitter clinical testing The splice acceptor variant c.1348-1G>C in MTHFR (NM_005957.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1348-1G>C variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant affects an invariant splice site and hence is predicted to cause protein truncation. For these reasons, this variant has been classified as Likely Pathogenic
Baylor Genetics RCV003465778 SCV004196432 likely pathogenic Neural tube defects, folate-sensitive 2023-08-06 criteria provided, single submitter clinical testing

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