ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln) (rs727504582)

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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 RCV000155755 SCV000205466 likely benign not specified 2013-07-05 criteria provided, single submitter clinical testing Arg3941Gln in Exon 61 of USH2A: This variant is not expected to have clinical si gnificance because the Arg residue at position 3941 is not conserved in several species and megabat, tenrec, and sloth) have a glutamine (Gln) at this position despite high nearby amino acid conservation. In addition, computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2) predict the variant will not impact the protein.
Counsyl RCV000671917 SCV000796951 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-01-08 criteria provided, single submitter clinical testing

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