Submissions for variant NM_005518.4(HMGCS2):c.858C>T (p.Ser286=)

gnomAD frequency: 0.00546  dbSNP: rs1992376

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000315225	SCV000347908	likely benign	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	2018-01-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000315225	SCV000648569	benign	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	2025-02-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000596891	SCV000703979	benign	not specified	2017-01-05	criteria provided, single submitter	clinical testing
GeneDx	RCV001706429	SCV001834560	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000315225	SCV003799678	benign	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	2023-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706429	SCV004124438	likely benign	not provided	2025-03-01	criteria provided, single submitter	clinical testing	HMGCS2: BP4, BP7, BS2