ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10826G>T (p.Ser3609Ile) (rs727504307)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732182 SCV000860102 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154358 SCV000204021 uncertain significance not specified 2015-09-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser3609Ile va riant in USH2A has been identified by our laboratory in 1 Latino individual with hearing loss and in 6/1154 Latino chromosomes by the Exome Aggregation Consorti um (ExAC, http://exac.broadinstitute.org; dbSNP rs727504307). The Serine (Ser) a t position 3609 is not conserved in mammals or evolutionary distant species, and 2 mammals (horse and platypus) carry an isoleucine (Ile) at this position, rais ing the possibility that this change may be tolerated. Additional computational prediction tools suggest that the p.Ser3609Ile variant may not impact the protei n, though this information is not predictive enough to rule out pathogenicity. I n summary, while the clinical significance of the p.Ser3609Ile variant is uncert ain, these data suggest that it is more likely to be benign.

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