ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)

gnomAD frequency: 0.00006  dbSNP: rs150431185
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248282 SCV001421754 uncertain significance Holocarboxylase synthetase deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 183 of the HLCS protein (p.Arg183Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs150431185, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001248282 SCV002083742 uncertain significance Holocarboxylase synthetase deficiency 2021-01-28 no assertion criteria provided clinical testing

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