ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) (rs483353056)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670917 SCV000795833 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000373313 SCV000340407 uncertain significance not provided 2016-03-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000826074 SCV000967569 uncertain significance not specified 2018-10-23 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser2492Leu va riant in USH2A has been reported in 1 individual with retinitis pigmentosa who a lso harbored the p.Glu767fs pathogenic variant; however, the phasing of these va riants was not determined (Carss 2017). This variant has also been identified in 0.005% (1/19894) of East Asian chromosomes and 0.003% (4/128566) of European ch romosomes by gnomAD (http://gnomad.broadinstitute.org). Serine (Ser) at position 2492 is poorly conserved across species, with three mammals (rat, naked mole ra t, and Bactrian camel) carrying a leucine (Leu) at this position. In addition, c omputational prediction tools and conservation analysis suggest that this varian t may not impact the protein, though this information is not predictive enough t o rule out pathogenicity. In summary, although the clinical significance of the p.Ser2492Leu variant is uncertain, the lack of conservation suggests it is more likely to be benign. ACMG/AMP Criteria applied: PM2, PM3_Supporting, BP4_Strong.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504866 SCV000598827 uncertain significance Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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