ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9871G>A (p.Gly3291Ser) (rs138543813)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665320 SCV000789420 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-01-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825851 SCV000967335 likely benign not specified 2018-04-03 criteria provided, single submitter clinical testing The p.Gly3291Ser variant has been previously reported in one individual with Ush er syndrome; however the variant reported on the other allele (p.Tyr1992Cys) is classified as benign based on its frequency (Krawitz 2014). The p.Gly3291Ser var iant has been identified in 0.05% (59/126516) European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs1385438 13). Although this variant has been seen in the general population, its frequen cy is not high enough to rule out a pathogenic role. Computational prediction to ols and conservation analyses suggest that this variant may not impact the prote in, and at least one mammal (shrew) has a Serine at this residue as do other low er species (birds, reptiles, fish). In summary, the clinical significance of the p.Gly3291Ser variant is likely benign. ACMG/AMP Criteria applied: BP4_Strong.

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