ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) (rs727504721)

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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 RCV000156012 SCV000205724 uncertain significance not specified 2013-09-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg274Gln varia nt in USH2A has not been reported in individuals with hearing loss or in large p opulation studies. The arginine (Arg) residue at position 274 is not well conser ved across species with cat and shrew having a glutamine (Gln) at that position. However, computational data (SIFT, PolyPhen2, AlignGVGD) provide conflicting pr edictions on the impact of the variant. In summary, the clinical significance of this variant cannot be determined with certainty; however based upon the conser vation data, we would lean towards a more likely benign role.
Counsyl RCV000673498 SCV000798706 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-20 criteria provided, single submitter clinical testing

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