ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1553A>G (p.Asn518Ser)

dbSNP: rs1747471598
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350209 SCV001544591 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2020-09-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MCCC2 protein function. This variant has not been reported in the literature in individuals with MCCC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 518 of the MCCC2 protein (p.Asn518Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine.

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