ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1619T>A (p.Val540Asp)

gnomAD frequency: 0.00001  dbSNP: rs766384881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523782 SCV000619705 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing The V540D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V540D variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V540D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether the V540D variant is a pathogenic variant or a rare benign variant.
Natera, Inc. RCV001829505 SCV002084924 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-01-26 no assertion criteria provided clinical testing

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