ClinVar Miner

Submissions for variant NM_000308.4(CTSA):c.843T>A (p.Cys281Ter)

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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 RCV003598207 SCV004372973 pathogenic Combined deficiency of sialidase AND beta galactosidase 2023-06-14 criteria provided, single submitter clinical testing This variant is present in population databases (rs771878314, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Cys299*) in the CTSA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTSA are known to be pathogenic (PMID: 15110321, 23915561). This variant has not been reported in the literature in individuals affected with CTSA-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV003598207 SCV005657022 likely pathogenic Combined deficiency of sialidase AND beta galactosidase 2024-04-24 criteria provided, single submitter clinical testing

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