ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs)

dbSNP: rs1485393201
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073301 SCV001238839 likely pathogenic Retinal dystrophy 2018-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862493 SCV002218669 pathogenic not provided 2022-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 865801). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 24944099). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Pro4532Leufs*29) 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).
Genome-Nilou Lab RCV003455310 SCV004183152 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003455310 SCV004208324 pathogenic Retinitis pigmentosa 39 2023-08-17 criteria provided, single submitter clinical testing

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