ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8212G>A (p.Asp2738Asn)

gnomAD frequency: 0.00001  dbSNP: rs750687826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672313 SCV000797410 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2018-01-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056417 SCV005726629 uncertain significance not specified 2024-11-18 criteria provided, single submitter clinical testing Variant summary: USH2A c.8212G>A (p.Asp2738Asn) results in a conservative amino acid change located in the Immunoglobulins domain (IPR013783) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250850 control chromosomes. c.8212G>A has been reported in the presumed compound heterozygous state in the literature in at least 1 individual affected with Usher Syndrome (example, Huang_2013). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 23737954). ClinVar contains an entry for this variant (Variation ID: 556319). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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