ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14787del (p.Glu4930fs) (rs34713174)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008087 SCV001167831 pathogenic not provided 2019-02-22 criteria provided, single submitter clinical testing The c.14787delA variant has been reported previously in association with retinitis pigmentosa (McGee et al., 2010). The deletion causes a frameshift starting with codon Glutamic acid 4930, changes this amino acid to an Asparagine residue and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Glu4930AsnfsX20. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.14787delA variant is not observed in large population cohorts (Lek et al., 2016). We interpret this variant as pathogenic.
Invitae RCV001008087 SCV001200128 pathogenic not provided 2020-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu4930Asnfs*20) in the USH2A 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 been reported in a cohort of individuals with autosomal recessive retinitis pigmentosa (PMID: 20507924). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10909849, 20507924, 24944099, 25649381). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075585 SCV001241212 likely pathogenic Retinal dystrophy 2019-01-17 criteria provided, single submitter clinical testing

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