ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)

dbSNP: rs1555885056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634877 SCV000756235 uncertain significance Holocarboxylase synthetase deficiency 2021-09-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 505 of the HLCS protein (p.Gly505Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with holocarboxylase synthetase deficiency (PMID: 20095979; Invitae). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Counsyl RCV000634877 SCV000793895 uncertain significance Holocarboxylase synthetase deficiency 2017-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000634877 SCV005059686 likely pathogenic Holocarboxylase synthetase deficiency 2024-02-24 criteria provided, single submitter clinical testing

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