ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)

gnomAD frequency: 0.00056  dbSNP: rs149017703
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685336 SCV000812814 likely benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000685336 SCV000897077 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-07-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000685336 SCV001306586 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.
Baylor Genetics RCV000685336 SCV001529875 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-06-29 criteria provided, single submitter clinical testing
GeneDx RCV001557287 SCV001779022 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 21796119)
Revvity Omics, Revvity RCV000685336 SCV003810806 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163095 SCV003868675 uncertain significance Inborn genetic diseases 2023-03-06 criteria provided, single submitter clinical testing The c.1942G>A (p.G648S) alteration is located in exon 17 (coding exon 17) of the MCCC1 gene. This alteration results from a G to A substitution at nucleotide position 1942, causing the glycine (G) at amino acid position 648 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001273450 SCV001456485 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-04-23 no assertion criteria provided clinical testing

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