ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)

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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 RCV003056613 SCV003446432 pathogenic Holocarboxylase synthetase deficiency 2023-09-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2140758). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. This variant is present in population databases (rs751956557, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.His406Argfs*15) 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).
Baylor Genetics RCV003056613 SCV004199849 likely pathogenic Holocarboxylase synthetase deficiency 2024-02-27 criteria provided, single submitter clinical testing
GeneDx RCV004725494 SCV005332467 likely pathogenic not provided 2024-02-12 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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