ClinVar Miner

Submissions for variant NC_000001.11:g.(?_119768721)_(119768864_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001032719 SCV001196026 pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2019-11-18 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the HMGCS2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the HMGCS2 gene. This is expected to result in an absent or disrupted protein product. This variant has been observed in individual(s) with clinical features of HMG-CoA synthase-2 deficiency (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Loss-of-function variants in HMGCS2 are known to be pathogenic (PMID: 20346956, 23751782, 25511235). For these reasons, this variant has been classified as Pathogenic.

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