ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067305 SCV001232359 uncertain significance Holocarboxylase synthetase deficiency 2020-01-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 183 of the HLCS protein (p.Arg183Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with holocarboxylase synthetase deficiency (PMID: 10590022). This variant has been reported to affect HLCS protein function (PMID: 10590022). 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.

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