ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7594+1G>A

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464855 SCV004206449 pathogenic Retinitis pigmentosa 39 2021-12-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587499 SCV005075899 likely pathogenic Usher syndrome 2024-04-02 criteria provided, single submitter clinical testing Variant summary: USH2A c.7594+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a canonical 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-06 in 250816 control chromosomes (gnomAD). c.7594+1G>A has been reported in the literature in at-least one individual affected with inherited retinal disease (IRD) (example: Gao_2021). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 32188678, 36110214, 29625443). ClinVar contains an entry for this variant (Variation ID: 2679574). Based on the evidence outlined above, the variant was classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005012979 SCV005638780 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-04-04 criteria provided, single submitter clinical testing

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