ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.690_698del (p.Ala231_His233del)

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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 RCV002819960 SCV003199842 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-05-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1999926). This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.690_698del, results in the deletion of 3 amino acid(s) of the HMGCL protein (p.Ala231_His233del), but otherwise preserves the integrity of the reading frame. This variant disrupts a region of the HMGCL protein in which other variant(s) (p.His233Arg) have been determined to be pathogenic (PMID: 8798725, 9784232, 14518825, 16330550). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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