ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6590C>T (p.Thr2197Ile) (rs140487302)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152602 SCV000201897 uncertain significance not specified 2013-09-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr2197Ile vari ant in USH2A has not been reported in individuals with hearing loss, but has bee n identified in 0.07% (6/8600) of European American chromosomes by the NHLBI Exo me Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs140487302). Al though this variant has been seen in the general population, its frequency is no t high enough to rule out a pathogenic role. Computational analyses (biochemica l amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not pr ovide strong support for or against an impact to the protein. In summary, the cl inical significance of this variant cannot be determined with certainty; however based upon the frequency data described above, we would lean towards a more lik ely benign role.
Counsyl RCV000669599 SCV000794369 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-06 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504981 SCV000598822 uncertain significance Usher syndrome 2015-01-01 no assertion criteria provided research

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