ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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by our laborator y in one individual with hearing loss who also carried a second pathogenic USH2A variant (LMM unpublished data).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 (; 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487657 SCV000574819 likely pathogenic not provided 2016-11-01 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
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199802 SCV001162742 pathogenic Usher syndrome type 2 2020-01-09 criteria provided, single submitter research
Blueprint Genetics RCV001074210 SCV001239783 likely pathogenic Retinal dystrophy 2019-03-19 criteria provided, single submitter clinical testing
GeneDx RCV000487657 SCV001779585 pathogenic not provided 2021-02-02 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Counsyl RCV000156895 SCV000487436 likely pathogenic Usher syndrome, type 2A 2016-07-22 no assertion criteria provided clinical testing
Counsyl RCV000412258 SCV000487437 likely pathogenic Retinitis pigmentosa 39 2016-07-22 no assertion criteria provided clinical testing

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