ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.295A>G (p.Met99Val) (rs1467385866)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521248 SCV000618822 likely pathogenic not provided 2017-07-12 criteria provided, single submitter clinical testing The M99V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M99V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M99V variant occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Furthermore, missense variants in nearby residues (G94R, G94V, P95R) have been reported in the Human Gene Mutation Database in association with MMA (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, we interpret the M99V variant as likely pathogenic; however, the possibility that it is benign cannot be excluded.

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