ClinVar Miner

Submissions for variant NC_000001.10:g.(?_24125085)_(24151905_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004583955 SCV005065070 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-03-23 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the HMGCL gene has been identified. Loss-of-function variants in HMGCL are known to be pathogenic (PMID: 9817922, 17692550, 23465862). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HMGCL-related conditions.
Labcorp Genetics (formerly Invitae), Labcorp RCV004583954 SCV005065111 pathogenic UDPglucose-4-epimerase deficiency 2023-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GALE-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 1-4 of the GALE gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALE are known to be pathogenic (PMID: 16301867).

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