ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)

dbSNP: rs1553258122
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670151 SCV000794975 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855538 SCV002232961 pathogenic not provided 2022-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln15*) 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 variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 554504). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155271 SCV003844760 likely pathogenic Usher syndrome 2023-02-02 criteria provided, single submitter clinical testing Variant summary: USH2A c.43C>T (p.Gln15X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250392 control chromosomes (gnomAD). To our knowledge, no occurrence of c.43C>T in individuals affected with Usher Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Genome-Nilou Lab RCV003453295 SCV004183028 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453294 SCV004183029 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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