ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1211-1107C>T (rs727504667)

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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 RCV000155933 SCV000205645 uncertain significance not specified 2013-08-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 1284+4C>T varia nt in USH1C has not been reported in individuals with hearing loss or in large p opulation studies. This variant is located in the 5' splice region. Computationa l tools do not suggest an impact to splicing. However, this information is not p redictive enough to rule out pathogenicity. Although position +4 is part of the splice site region, the reference sequence was already divergent from consensus (normally an A at this position) and therefore this variant is less likely to di srupt splicing. In summary, the clinical significance of this variant cannot be determined with certainty; however based upon the arguments described above, we would lean towards a more likely benign role.

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