ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.990T>C

dbSNP: rs727503165
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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 RCV000151030 SCV000198763 likely benign not specified 2013-12-13 criteria provided, single submitter clinical testing m.990T>C in MT-RNR1: The m.990T>C variant has been previously reported in 2/908 (0.2%) individuals with hearing loss and was not detected in 849 controls in tho se studies (Konings 2008, Shen 2011). However, it has been identified in 1.89% ( 19/1008) of individuals from broad populations by several human phylogeny studie s (MitoMap.org). Therefore, in the absence of any statistically significant asso ciation to hearing loss, the frequency of this variant in the general population , as evidenced by the phylogeny studies, suggests that it is likely benign.

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