ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.4856C>T (p.Ser1619Leu) (rs867891665)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213443 SCV000272256 uncertain significance not specified 2016-02-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser1619Leu va riant in OTOG has not been previously reported in individuals with hearing loss. Data from large population studies are insufficient to assess the frequency of this variant. The serine (Ser) at position 1619 is not highly conserved in mamm als and evolutionary distant species. Of note, two mammals (shrew and wallaby) h ave a leucine (Leu) at this position despite high nearby amino acid conservation . Additional computational prediction tools do not provide strong support for o r against an impact to the protein. In summary, while the clinical significance of the p.Ser1619Leu variant is uncertain, the conservation data suggest it is mo re likely to be benign.

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