ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15208G>T (p.Glu5070Ter)

dbSNP: rs1426135314
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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 RCV001385869 SCV001585874 pathogenic not provided 2021-10-27 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: 1073006). This sequence change creates a premature translational stop signal (p.Glu5070*) 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 present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 29142287).
Natera, Inc. RCV001831392 SCV002088196 pathogenic Usher syndrome type 2A 2021-08-23 no assertion criteria provided clinical testing

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