ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn) (rs551424240)

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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 RCV000152634 SCV000201956 uncertain significance not specified 2014-12-24 criteria provided, single submitter clinical testing The p.Asp528Asn variant in USH2A has not been previously reported in individuals with hearing loss but has been identified in 3/122780 chromosomes by the Exome Aggregation consortium (ExAC, http://exac.broadinstitute.org). Although this var iant was seen in the general population, its frequency is not high enough to rul e out a pathogenic role. The aspartic acid (Asp) residue at position 528 is mode rately conserved in mammals and evolutionary distant species, but two mammals (s quirrel and Cape golden mole) carry Asparagine (Asn), raising the possibility th at this change may be tolerated. Additional computational prediction tools do no t provide strong support for or against an impact to the protein. In summary, th e clinical significance of the in p.Asp528Asn variant is uncertain.
Counsyl RCV000668649 SCV000793283 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-08-08 criteria provided, single submitter clinical testing

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