ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.84T>C (p.Thr28=)

gnomAD frequency: 0.00001  dbSNP: rs752969194
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431031 SCV000534950 likely benign not specified 2017-01-10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000899451 SCV001043721 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2023-12-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000899451 SCV004172803 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912779 SCV004730019 likely benign HMGCL-related disorder 2023-09-29 no assertion criteria provided 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).

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