ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6730G>A (p.Val2244Met) (rs550772689)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152600 SCV000201891 uncertain significance not specified 2013-12-19 criteria provided, single submitter clinical testing The Val2244Met variant in USH2A has been previously reported in one individual w ith hearing loss; however variants in other genes were also identified in this i ndividual and the authors of the study attributed a homozygous variant in anothe r gene for causing the hearing loss (Shearer 2013). Computational analyses (bioc hemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully assess the clinical significance of th is variant.
Counsyl RCV000673612 SCV000798836 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000673612 SCV000896267 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504879 SCV000598824 uncertain significance Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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