Submissions for variant NM_020166.5(MCCC1):c.1614G>A (p.Ser538=)

gnomAD frequency: 0.01204  dbSNP: rs34749281

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153462	SCV000202969	benign	not specified	2014-01-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000153462	SCV000313454	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000554672	SCV000442288	likely benign	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000554672	SCV000656950	benign	3-methylcrotonyl-CoA carboxylase 1 deficiency	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000153462	SCV000728694	benign	not specified	2017-01-27	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.
Genome-Nilou Lab	RCV000554672	SCV001712304	benign	3-methylcrotonyl-CoA carboxylase 1 deficiency	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003436962	SCV004149468	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	MCCC1: BP4, BP7, BS1, BS2
Natera, Inc.	RCV001273491	SCV001456578	benign	Methylcrotonyl-CoA carboxylase deficiency	2020-09-16	no assertion criteria provided	clinical testing