ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1096dup (p.Ile366fs) (rs773102942)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000001990 SCV000949301 pathogenic Holocarboxylase synthetase deficiency 2019-12-17 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. This variant is present in population databases (rs773102942, ExAC 0.03%). This variant has been observed in individuals affected with holocarboxylase synthetase deficiency (PMID: 11735028). This variant is also known as 655–656insA in the literature. ClinVar contains an entry for this variant (Variation ID: 1913). Loss-of-function variants in HLCS are known to be pathogenic (PMID: 16134170). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001990 SCV000022148 pathogenic Holocarboxylase synthetase deficiency 2001-11-01 no assertion criteria provided literature only

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