ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1007del (p.Met336fs) (rs1064796328)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671026 SCV000795964 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000484739 SCV000572931 pathogenic not provided 2017-02-01 criteria provided, single submitter clinical testing The c.1007delT variant in the MUT gene causes a frameshift starting with codon Methionine 336, changes this amino acid to a Serine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Met336SerfsX12. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, it is expected to be a pathogenic variant.

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