ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.2020C>T (p.Pro674Ser) (rs547173007)

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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 RCV000600972 SCV000731721 uncertain significance not specified 2017-07-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro674Ser var iant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 0.26% (58/22594) of South Asian chromosomes including 1 homozygote by the Genome Aggregation Database (gnomAD, http://gnomad.broadins titute.org/; dbSNP rs547173007). Although this variant has been seen in the gene ral population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses do not provide strong s upport for or against an impact to the protein. In summary, while the clinical s ignificance of the p.Pro674Ser variant is uncertain, its frequency suggests that it is more likely to be benign.

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