ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1630_1631delinsTA (p.Gly544Ter) (rs796052008)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186061 SCV000239025 pathogenic not provided 2017-03-21 criteria provided, single submitter clinical testing The c.1630_1631delinsTA, phase tested in cis, results in a G544X nonsense change, which is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The normal sequence shown with the deleted and inserted bases in brackets is: CTAGC[delGGinsTA]AGATGG. Although this variant has not been reported previously to our knowledge, it is considered pathogenic. The variant is found in MUT panel(s).
Invitae RCV001055323 SCV001219710 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2019-03-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly544*) in the MUT gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with methylmalonic aciduria (PMID: 12948746, 26483233). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 203860). Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). For these reasons, this variant has been classified as Pathogenic.

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