ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1889T>C (p.Leu630Pro) (rs377002861)

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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 RCV000041261 SCV000064952 uncertain significance not specified 2010-08-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Leu630Pro varia nt in USH1C has not been reported in the literature nor previously identified by our laboratory. This residue is conserved across species; however, computationa l analyses (PolyPhen, SIFT, AlignGVGD) provide inconsistent predictions regardin g the impact to the protein though this information is not very predictive of pa thogenicity anyway. In summary, the clinical significance of this variant cannot be determined at this time; however based upon the identification of the varian t in a patient with another explanation for hearing loss and without a variant o n the second copy of USH1C, we would lean towards a more likely benign role.

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