ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter)

dbSNP: rs397517981
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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, Mass General Brigham Personalized Medicine RCV000041728 SCV000065424 pathogenic Rare genetic deafness 2011-11-30 criteria provided, single submitter clinical testing The Tyr4238X variant in USH2A has not been reported in the literature nor previo usly identified by our laboratory. The Tyr4238X variant leads to a premature sto p codon at position 4238, which is predicted to lead to a truncated or absent pr otein. In summary, this variant meets our criteria to be classified as pathogeni c.
Labcorp Genetics (formerly Invitae), Labcorp RCV001852858 SCV002240279 pathogenic not provided 2023-10-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr4238*) 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: 23352160). ClinVar contains an entry for this variant (Variation ID: 48405). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003450767 SCV004181953 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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