ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3649G>A (p.Asp1217Asn) (rs202247801)

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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 RCV000219472 SCV000272896 uncertain significance not specified 2015-05-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asp1217Asn va riant in USH2A has not been previously reported in individuals with hearing loss , but has been identified in 1/66726 European chromosomes and 1/16512 South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs202247801). The aspartic acid (Asp) at position 1217 is not con served through species, with 2 mammals (gibbon and platypus) having an asparagin e (Asn) at this position. Additional computational prediction tools suggest that this variant may not impact the protein, though this information is not predict ive enough to rule out pathogenicity. In summary, while the clinical significanc e of the p.Asp1217Asn variant is uncertain, the lack of evolutionary conservatio n suggests that it is more likely to be benign.
Counsyl RCV000670196 SCV000795026 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-30 criteria provided, single submitter clinical testing

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