ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.4106C>T (p.Ser1369Leu) (rs201709513)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665274 SCV000789366 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-01-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726718 SCV000702404 uncertain significance not provided 2016-11-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041837 SCV000065533 uncertain significance not specified 2016-10-25 criteria provided, single submitter clinical testing The p.Ser1369Leu variant in USH2A has been previously reported in three individu als with Usher syndrome, one individual with retinitis pigmentosa, and one indiv idual with hearing loss (Colombo 2015, Cremers 2007, Dad 2015, Wang 2014, LMM da ta). In the proband with retinitis pigmentosa, a second variant of uncertain si gnificance was identified and the two variants segregated in an affected sibling ; however, cis/trans testing was not performed (Wang 2014). In the remaining pr obands, a pathogenic variant affecting the remaining copy of USH2A was not ident ified. This variant has been identified in 13/65610 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201 709513); however, this frequency is not high enough to rule out a pathogenic rol e. The serine (Ser) at position 1369 is not conserved through species, with 2 m ammals (squirrel and brush-tailed rat) and 2 bird species having a leucine, sugg esting that this change may be tolerated. Additional computational prediction t ools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ser1369Leu variant is uncertain.

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