ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter)

dbSNP: rs2032147505
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070700 SCV001235967 pathogenic not provided 2023-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1645*) 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: 26969326, 27460420). ClinVar contains an entry for this variant (Variation ID: 863680). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001070700 SCV001248852 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455300 SCV004181866 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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