ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) (rs150230450)

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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 RCV000152606 SCV000201902 uncertain significance not specified 2013-10-17 criteria provided, single submitter clinical testing The Pro2078Arg variant in USH2A has not been reported in individuals with hearin g loss, but has been identified in 0.02% (1/4406) of African American chromosome s by the NHLBI Exome Sequencing Project (; dbSN P rs150230450). Computational analyses (biochemical amino acid properties, conse rvation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Pro2078Arg variant may impact the protein, though this information is not predictive enough to determi ne pathogenicity. In summary, additional data is needed to determine the clinica l significance of this variant.
Counsyl RCV000664998 SCV000789048 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2016-12-27 criteria provided, single submitter clinical testing
Invitae RCV000922822 SCV001068267 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003269 SCV001161352 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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