ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn) (rs727503724)

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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 RCV000152603 SCV000201898 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Lys2164Asn vari ant in USH2A has not been previously reported in individuals with hearing loss a nd was absent from large population studies. Lysine (Lys) at position 2164 is n ot conserved in mammals or evolutionarily distant species and two species (pika and mallard duck) carry an asparagine (asn), raising the possibility that this c hange may be tolerated. Additional computational prediction tools and conservati on analyses do not provide strong support for or against an impact to the protei n. In summary, while the clinical significance of the Lys2164Asn variant is unce rtain, these data suggest that is more likely to be benign.
Counsyl RCV000666186 SCV000790436 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-03-24 criteria provided, single submitter clinical testing

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