Submissions for variant NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly)

dbSNP: rs754437215

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000993944	SCV001147192	uncertain significance	not provided	2019-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001858779	SCV002225633	uncertain significance	Deficiency of hydroxymethylglutaryl-CoA lyase	2021-11-22	criteria provided, single submitter	clinical testing	This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 7 of the HMGCL protein (p.Ala7Gly). This variant is present in population databases (rs754437215, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 806088). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics	RCV001858779	SCV002816907	uncertain significance	Deficiency of hydroxymethylglutaryl-CoA lyase	2021-07-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001858779	SCV004172858	uncertain significance	Deficiency of hydroxymethylglutaryl-CoA lyase	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000993944	SCV005186568	uncertain significance	not provided		criteria provided, single submitter	not provided