Submissions for variant NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg)

gnomAD frequency: 0.00043  dbSNP: rs192833530

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000603476	SCV000724301	likely benign	not specified	2017-11-10	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.
Invitae	RCV000946057	SCV001092146	benign	Deficiency of hydroxymethylglutaryl-CoA lyase	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000946057	SCV001257086	benign	Deficiency of hydroxymethylglutaryl-CoA lyase	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000603476	SCV002819784	likely benign	not specified	2022-12-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000946057	SCV004172261	likely benign	Deficiency of hydroxymethylglutaryl-CoA lyase	2023-04-11	criteria provided, single submitter	clinical testing