ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8391del (p.Gly2799fs)

dbSNP: rs1553272176
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673948 SCV000799209 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-04-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465533 SCV004206313 likely pathogenic Retinitis pigmentosa 39 2023-02-27 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817907 SCV005069835 pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005240448 SCV005886542 pathogenic Usher syndrome 2025-02-13 criteria provided, single submitter clinical testing Variant summary: USH2A c.8391delA (p.Gly2799ValfsX31) 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. The variant allele was found at a frequency of 4e-06 in 251322 control chromosomes (gnomAD). To our knowledge, no occurrence of c.8391delA in individuals affected with Usher Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 557769). Based on the evidence outlined above, the variant was classified as pathogenic.

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