ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.726T>C (p.Asp242=)

gnomAD frequency: 0.00445  dbSNP: rs36206712
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126698 SCV000170208 benign not specified 2014-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000872406 SCV001014209 benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436947 SCV004149470 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing MCCC1: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics RCV003436947 SCV005302560 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001275514 SCV001460699 benign Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing

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