ClinVar Miner

Submissions for variant NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter)

gnomAD frequency: 0.00001  dbSNP: rs1239725461
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760910 SCV000890806 pathogenic not provided 2019-01-21 criteria provided, single submitter clinical testing The Q793X variant in the SCAPER 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 Q793X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q793X as a pathogenic variant.
New Leaf Center RCV000984530 SCV001132588 likely pathogenic Intellectual developmental disorder and retinitis pigmentosa; IDDRP 2019-04-30 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000984530 SCV001423243 not provided Intellectual developmental disorder and retinitis pigmentosa; IDDRP no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 01-24-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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