ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) (rs769499327)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664908 SCV000788938 likely pathogenic Holocarboxylase synthetase deficiency 2017-01-11 criteria provided, single submitter clinical testing
Invitae RCV000664908 SCV001414570 pathogenic Holocarboxylase synthetase deficiency 2020-05-05 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 363 of the HLCS protein (p.Val363Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is present in population databases (rs769499327, ExAC 0.02%). This variant has been observed in individuals with holocarboxylase synthetase deficiency (PMID: 8817339, 19806568, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 550218). This variant has been reported to affect HLCS protein function (PMID: 10068510, 10590022). For these reasons, this variant has been classified as Pathogenic.

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