ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9155A>G (p.Glu3052Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985196 SCV004801531 uncertain significance Usher syndrome type 2A 2020-09-30 criteria provided, single submitter clinical testing The USH2A c.9155A>G (p.Glu3052Gly) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the c.9155A>G p.Glu3052Gly variant is classified as a variant of uncertain significance for Usher syndrome type 2.

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