ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7685T>C (p.Val2562Ala) (rs56385601)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041915 SCV000065611 benign not specified 2011-01-17 criteria provided, single submitter clinical testing Val2562Ala in exon 41 of USH2A: This variant has been reported in nine individua ls with a clinical diagnosis of Usher Syndrome types 1, 2 or 3 (Dreyer 2008, Jai jo 2009). However, several of these individuals already had other explanations f or their Usher syndrome (Jaijo 2009). In addition, this amino acid is not highly conserved acroos evolution, with the mouse and rat having an alanine at positio n 2562. In addition, this variant is listed in dbSNP (rs56385601 - no frequency data available) and has been identified in 6/278 (2.2%) probands tested by our l aboratory, none of whom had a variant on their second USH2A allele. In summary, this variant meets our criteria to be classified as benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041915 SCV000230559 benign not specified 2015-02-05 criteria provided, single submitter clinical testing

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