ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5548del (p.Tyr1850fs)

dbSNP: rs2102554196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003546707 SCV004272428 pathogenic not provided 2023-06-16 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: 1185075). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 34416374). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1850Ilefs*14) 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).
WangQJ Lab, Chinese People's Liberation Army General Hospital RCV001822897 SCV001762426 pathogenic Usher syndrome type 2A 2021-07-01 no assertion criteria provided clinical testing

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