ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468338 SCV004199833 likely pathogenic Holocarboxylase synthetase deficiency 2023-08-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003468338 SCV004673663 pathogenic Holocarboxylase synthetase deficiency 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr387Alafs*33) in the HLCS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HLCS are known to be pathogenic (PMID: 16134170). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. For these reasons, this variant has been classified as Pathogenic.

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