ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7679A>G (p.Asn2560Ser) (rs370155266)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723775 SCV000203772 uncertain significance not provided 2014-02-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041912 SCV000065608 uncertain significance not specified 2012-12-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asn2560Ser vari ant in USH2A has not been reported in the literature nor previously identified b y our laboratory. Computational analyses (biochemical amino acid properties, con servation, AlignGVGD, PolyPhen2, and SIFT) does not provide strong evidence for or against pathogenicity. This variant has been identified in 0.01% (1/8600) of European American chromosomes and 0.02% (1/4406) of African American chromosomes in a broad population by the NHLBI Exome sequencing project (http://evs.gs.wash ington.edu/EVS/), however this frequency is not high enough to rule out pathogen icity. In summary, additional data is needed to determine the clinical significa nce of this variant.

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