ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)

dbSNP: rs148324626
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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 RCV000707072 SCV000836152 pathogenic Holocarboxylase synthetase deficiency 2024-01-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu202*) 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 (no rsID available, gnomAD 0.0009%). 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: 582885). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000707072 SCV004199818 likely pathogenic Holocarboxylase synthetase deficiency 2024-03-19 criteria provided, single submitter clinical testing

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