ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)

dbSNP: rs1555930523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673870 SCV000799122 likely pathogenic Holocarboxylase synthetase deficiency 2018-04-10 criteria provided, single submitter clinical testing
Invitae RCV000673870 SCV001416485 pathogenic Holocarboxylase synthetase deficiency 2020-09-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu420*) in the HLCS gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with HLCS-related conditions. ClinVar contains an entry for this variant (Variation ID: 557697). Loss-of-function variants in HLCS are known to be pathogenic (PMID: 16134170). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000673870 SCV004199834 likely pathogenic Holocarboxylase synthetase deficiency 2023-08-10 criteria provided, single submitter clinical testing

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