ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)

dbSNP: rs1198548955
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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 RCV001377994 SCV001575464 likely pathogenic Holocarboxylase synthetase deficiency 2020-03-22 criteria provided, single submitter clinical testing This variant has been reported to affect HLCS protein function (PMID: 10190325, 10590022). This variant has been observed in individuals with holocarboxylase synthetase deficiency (PMID: 10190325, 11735028, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glutamic acid at codon 433 of the HLCS protein (p.Val333Glu). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glutamic acid. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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