ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.312del (p.Trp105fs) (rs1064793768)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668157 SCV000792711 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000478569 SCV000566981 pathogenic not provided 2015-06-25 criteria provided, single submitter clinical testing The c.312delC deletion in the MUT gene causes a frameshift starting with codon Tryptophan 105,changes this amino acid to a Glycine residue and creates a premature Stop codon at position 75 of the newreading frame, denoted p.Trp105GlyfsX75. This deletion is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. Although this variant hasnot been previously reported to our knowledge, it is expected to be pathogenic.

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