ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.276_278delinsT (p.Leu92fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002307908 SCV002604370 likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2022-03-01 criteria provided, single submitter clinical testing NM_000191.2(HMGCL):c.276_278delGAAinsT(L92Ffs*59) is expected to be pathogenic in the context of HMG-CoA lyase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in HMGCL, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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