ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) (rs145577757)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760923 SCV000890819 likely pathogenic not provided 2019-01-08 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the SZT2 gene.The R1901X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1901X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1901X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Invitae RCV000760923 SCV001216829 pathogenic not provided 2019-05-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1901*) in the SZT2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SZT2-related conditions. Loss-of-function variants in SZT2 are known to be pathogenic (PMID: 23932106, 27248490, 28556953). For these reasons, this variant has been classified as Pathogenic.

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