ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.863del (p.Ser288fs)

dbSNP: rs1015594025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001941608 SCV002229243 pathogenic Holocarboxylase synthetase deficiency 2024-04-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser141Metfs*117) 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. ClinVar contains an entry for this variant (Variation ID: 1453907). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001941608 SCV004199861 likely pathogenic Holocarboxylase synthetase deficiency 2023-03-21 criteria provided, single submitter clinical testing

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