ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1574T>C (p.Leu525Pro) (rs727504790)

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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 RCV000156108 SCV000205821 uncertain significance not specified 2013-12-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Leu525Pro varia nt in USH1C has not been previously reported in individuals with hearing loss. S equencing data from large population studies is insufficient to assess variant f requency. Computational analyses (biochemical amino acid properties, conservati on, AlignGVGD, PolyPhen2, and SIFT) suggest that the Leu525Pro variant may not i mpact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant cannot be d etermined with certainty; however based upon the computational assessments, we w ould lean towards a more likely benign role.

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