ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)

gnomAD frequency: 0.00049  dbSNP: rs138937107
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070728 SCV001235996 likely benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002554607 SCV003715025 likely benign Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV001070728 SCV003810803 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963033 SCV004785388 likely benign MCCC1-related condition 2022-11-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001070728 SCV001456484 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-01-17 no assertion criteria provided clinical testing

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