ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.998G>A (p.Ser333Asn) (rs200073414)

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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 RCV000213549 SCV000271641 uncertain significance not specified 2015-05-12 criteria provided, single submitter clinical testing The p.Ser333Asn variant in DFNB31 has not been previously reported in individual s with hearing loss, but has been identified in 13/66006 European chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP r s200073414). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational predic tion tools and conservation analysis suggest that the p.Ser333Asn variant may no t impact the protein, though this information is not predictive enough to rule o ut pathogenicity. In summary, the clinical significance of the p.Ser333Asn varia nt is uncertain.
Invitae RCV001406441 SCV001608395 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing

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