ClinVar Miner

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

dbSNP: rs397517989
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001380766 SCV001578924 pathogenic not provided 2023-08-04 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. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 25649381, 29912909). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 48429). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003450783 SCV004183096 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450782 SCV004183097 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003450783 SCV005055686 pathogenic Retinitis pigmentosa 39 2024-03-18 criteria provided, single submitter clinical testing

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