ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1678G>C (p.Ala560Pro) (rs367952604)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152548 SCV000201759 uncertain significance not specified 2014-04-12 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala560Pro varia nt in USH1C has not been previously reported in individuals with hearing loss, b ut has been identified in 3/4398 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu). The alanine (Ala) residue a t position 560 is not well conserved across species, with proline (Pro) present in several evolutionarily distant species at that position. In addition, computa tional prediction tools suggest this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty; however based upon the conservation and computational data, we would lean toward s a more likely benign role.
Invitae RCV000920509 SCV001065877 likely benign not provided 2018-05-08 criteria provided, single submitter clinical testing

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