ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5083del (p.Ser1695fs)

dbSNP: rs1553300016
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674272 SCV000799581 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001380622 SCV001578750 pathogenic not provided 2024-02-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1695Valfs*19) 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: 558057). For these reasons, this variant has been classified as Pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002285397 SCV002575092 pathogenic Retinitis pigmentosa 39 2022-01-25 criteria provided, single submitter clinical testing A heterozygous single base pair deletion in exon 25 of the USH2A gene (chr1:g.216084782del;Depth:222x) that results in the a frameshift and premature truncation of the protein 19 amino acids downstream to codon 1695 (p.Ser1695ValfsTer19; ENST00000674083.1) was detected . The observed variant c.5089del (p.Ser1695ValfsTer19) has a minor allele frequency of 0.004% in the 1000 genomes and gnomAD databases. The in silico prediction of the variant is benign by PolyPhen-2 (HumDiv), SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.
Genome-Nilou Lab RCV002285397 SCV004181850 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453378 SCV004181851 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000674272 SCV005640849 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-06-08 criteria provided, single submitter clinical testing

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