ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2579C>T (p.Pro860Leu)

dbSNP: rs876658112
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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, Mass General Brigham Personalized Medicine RCV000218913 SCV000272876 uncertain significance not specified 2015-02-04 criteria provided, single submitter clinical testing The p.Pro860Leu variant in USH1C has not been previously reported in individuals with hearing loss or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the p.Pro860Leu vari ant is uncertain.

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