ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7541A>G (p.Asn2514Ser) (rs150060240)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000487893 SCV000339676 uncertain significance not provided 2016-02-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487893 SCV000574817 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000487893 SCV000618626 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing The N2514S variant in the USH2A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N2514S variant is observed in 8/16,508 (0.048%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). The N2514S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret N2514S as a variant of uncertain significance.

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