ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.987G>A (p.Trp329Ter)

gnomAD frequency: 0.00001  dbSNP: rs750475071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264158 SCV001442259 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2019-04-29 criteria provided, single submitter clinical testing
Invitae RCV003688930 SCV004433506 pathogenic not provided 2023-02-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp329*) in the MUT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). This variant is present in population databases (rs750475071, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MUT-related conditions. ClinVar contains an entry for this variant (Variation ID: 984150). For these reasons, this variant has been classified as Pathogenic.

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