ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter) (rs397517989)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041752 SCV000065448 pathogenic Rare genetic deafness 2012-03-06 criteria provided, single submitter clinical testing The Trp4727X variant in USH2A has not been reported in the literature nor previo usly identified by our laboratory. This nonsense variant leads to a premature te rmination codon at position 4727, which is predicted to lead to a truncated or a bsent protein. In summary, this variant meets our criteria to be classified as p athogenic (http://pcpgm.partners.org/LMM).
Counsyl RCV000674521 SCV000799870 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-05-11 criteria provided, single submitter clinical testing
Invitae RCV001380766 SCV001578924 pathogenic not provided 2020-02-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp4727*) 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 observed in individual(s) with Usher syndrome (PMID: 25649381, 29912909). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 48429). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic.

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