ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp) (rs146257403)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000218026 SCV000272572 uncertain significance not specified 2015-05-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg122Trp var iant in TSPEAR has not been previously reported in individuals with hearing loss . This variant has been identified in 0.15% (14/9534) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 146257403). Computational prediction tools and conservation analyses do not pro vide strong support for or against an impact to the protein In summary, while th e clinical significance of the p.Arg122Trp variant is uncertain, the frequency d ata suggests that it is more likely to be benign.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270088 SCV001448900 uncertain significance Deafness, autosomal recessive 98 2019-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001569443 SCV001793518 likely benign not provided 2020-08-26 criteria provided, single submitter clinical testing

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