ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)

dbSNP: rs397518029
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Total submissions: 4
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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 RCV000041905 SCV000065601 pathogenic Rare genetic deafness 2012-06-14 criteria provided, single submitter clinical testing The Ser2415X 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 2415 which is predicted to lead to a truncated or ab sent protein. In summary, this variant meets our criteria to be classified as pa thogenic (http://pcpgm.partners.org/LMM).
Labcorp Genetics (formerly Invitae), Labcorp RCV001205092 SCV001376328 pathogenic not provided 2024-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2415*) 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 variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 48579). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003450885 SCV004183276 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003466893 SCV004206354 pathogenic Retinitis pigmentosa 39 2023-01-12 criteria provided, single submitter clinical testing

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