ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.5877del (p.Ser1961fs) (rs727505343)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487657 SCV000574819 likely pathogenic not provided 2017-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000156895 SCV000487436 likely pathogenic Usher syndrome, type 2A 2016-07-22 criteria provided, single submitter clinical testing
Counsyl RCV000412258 SCV000487437 likely pathogenic Retinitis pigmentosa 39 2016-07-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000487657 SCV000701901 pathogenic not provided 2016-10-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000824786 SCV000206616 pathogenic Rare genetic deafness 2016-01-04 criteria provided, single submitter clinical testing The p.Ser1961fs variant in USH2A has been previously identified by our laborator y in one individual with hearing loss who also carried a second pathogenic USH2A variant (LMM unpublished data). It has also been identified in 1/8254 of Europe an American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS/); however, its frequency is low enough to be consistent with a recessive carrier frequency. The variant is predicted to cause a frameshift, whi ch alters the protein?s amino acid sequence beginning at position 1961 and leads to a premature termination codon 6 amino acids downstream. This alteration is t hen predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic for Usher syndrome in an auto somal recessive manner.

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