ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)

dbSNP: rs1553250072
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624450 SCV000741953 pathogenic Inborn genetic diseases 2016-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001049229 SCV001213270 pathogenic not provided 2019-01-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant has not been reported in the literature in individuals with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 521389). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln4900*) in the USH2A gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV003451479 SCV004183012 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003451479 SCV004206353 likely pathogenic Retinitis pigmentosa 39 2023-01-19 criteria provided, single submitter clinical testing

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