ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2476C>T (p.Arg826Ter)

gnomAD frequency: 0.00001  dbSNP: rs767342365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760644 SCV000890536 likely pathogenic not provided 2018-07-24 criteria provided, single submitter clinical testing The R826X variant in the SZT2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R826X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R826X as a likely pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000760644 SCV004373006 pathogenic not provided 2024-06-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg826*) in the SZT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SZT2 are known to be pathogenic (PMID: 23932106, 27248490, 28556953). This variant is present in population databases (rs767342365, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 620280). For these reasons, this variant has been classified as Pathogenic.

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