ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1096dup (p.Ile366fs)

gnomAD frequency: 0.00001  dbSNP: rs773102942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000001990 SCV000949301 pathogenic Holocarboxylase synthetase deficiency 2021-08-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile219Asnfs*58) 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 present in population databases (rs773102942, ExAC 0.03%). This premature translational stop signal has been observed in individuals with holocarboxylase synthetase deficiency (PMID: 11735028). This variant is also known as 655–656insA. ClinVar contains an entry for this variant (Variation ID: 1913). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000001990 SCV004199858 pathogenic Holocarboxylase synthetase deficiency 2024-01-23 criteria provided, single submitter clinical testing
OMIM RCV000001990 SCV000022148 pathogenic Holocarboxylase synthetase deficiency 2001-11-01 no assertion criteria provided literature only

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