ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13587del (p.Ser4530fs)

dbSNP: rs1571948114
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008896 SCV001168702 pathogenic not provided 2018-05-31 criteria provided, single submitter clinical testing The c.13587delC variant in the USH2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.13587delC variant causes a frameshift starting with codon Serine 4530, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Ser4530GlnfsX20. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.13587delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.13587delC as a pathogenic variant.
Baylor Genetics RCV004569853 SCV005055740 pathogenic Retinitis pigmentosa 39 2024-01-16 criteria provided, single submitter clinical testing

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