ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6854A>G (p.Asn2285Ser) (rs528089082)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521648 SCV000616914 uncertain significance not provided 2018-11-28 criteria provided, single submitter clinical testing The N2285S variant in the USH2A gene has been reported previously in Usher syndrome type II, in an affected individual who was compound heterozygous for the N2285S variant and another missense variant ( Le Quesne Stabej et al., 2012). The N2285S variant is observed in 37/16512 (0.22%) alleles from individuals of South Asian background, in the ExAC dataset (Lek et al., 2016). The N2285S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret N2285S as a variant of uncertain significance.

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