ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1643C>T (p.Ser548Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002922769 SCV003263271 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 548 of the MCCC1 protein (p.Ser548Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs754187797, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV003418651 SCV004108482 uncertain significance MCCC1-related disorder 2023-01-10 criteria provided, single submitter clinical testing The MCCC1 c.1643C>T variant is predicted to result in the amino acid substitution p.Ser548Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-182751817-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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