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 2019-12-24 criteria provided, single submitter clinical testing Identified in the heterozygous state in an individual with autosomal recessive retinitis pigmentosa, however, it is unknown if this individual harbored a second USH2A variant as limited information was provided in the report (McGee et al., 2010); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 20507924)
Invitae RCV001008087 SCV001200128 pathogenic not provided 2020-10-09 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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