ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser)

gnomAD frequency: 0.00011  dbSNP: rs371336335
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001154159 SCV001315491 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001154159 SCV003444850 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 20 of the MCCC2 protein (p.Pro20Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. While this variant is present in population databases (rs371336335), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV003163340 SCV003873835 uncertain significance Inborn genetic diseases 2023-01-20 criteria provided, single submitter clinical testing The c.58C>T (p.P20S) alteration is located in exon 1 (coding exon 1) of the MCCC2 gene. This alteration results from a C to T substitution at nucleotide position 58, causing the proline (P) at amino acid position 20 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004694970 SCV005188561 uncertain significance not provided criteria provided, single submitter not provided

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