ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)

gnomAD frequency: 0.00021  dbSNP: rs201806708
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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 RCV000403506 SCV000442284 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001570176 SCV001794407 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000403506 SCV002452215 likely benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000403506 SCV002079078 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-12-10 no assertion criteria provided clinical testing

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