ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) (rs767078782)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673272 SCV000798455 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000826153 SCV000967688 pathogenic Usher syndrome; Rare genetic deafness 2018-07-20 criteria provided, single submitter clinical testing The p.Cys870X variant in USH2A has been previously reported in >10 probands with Usher syndrome, who were either homozygous or compound heterozygous for another USH2A variant (Baux 2017, Bonnet 2016, Comander 2017, Krawitz 2014, Le Quesne S tabej 2012, Neuhaus 2017, Sodi 2014, Weisschuh 2016). This variant has been iden tified in 0.003% (4/126016) of European chromosomes by the Genome Aggregation Da tabase (gnomAD, http://gnomad.broadinstitute.org); however, its frequency is low enough to be consistent with a recessive carrier frequency. This nonsense varia nt leads to a premature termination codon at position 870, which is predicted to lead to a truncated or absent protein. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive Usher syndrome based on t he previously reported probands with Usher syndrome, the predicted impact of the variant, and its low frequency in the general population. ACMG/AMP criteria app lied: PVS1, PM3_VeryStrong, PM2, PP4.
Blueprint Genetics RCV001075425 SCV001241048 pathogenic Retinal dystrophy 2018-08-07 criteria provided, single submitter clinical testing

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