ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1150C>A (p.Leu384Ile)

dbSNP: rs538157231
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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 RCV001931338 SCV002205893 uncertain significance Holocarboxylase synthetase deficiency 2022-07-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Leu237 amino acid residue in HLCS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7842009, 8541348, 21894551). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1430113). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 237 of the HLCS protein (p.Leu237Ile).

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