ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu) (rs369125667)

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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 RCV000154340 SCV000204003 pathogenic Rare genetic deafness 2017-02-21 criteria provided, single submitter clinical testing The p.Ala26Glu variant has been previously reported in been reported in 5 indivi duals with Usher syndrome, 3 of whom also carried a second pathogenic or likely pathogenic MYO7A variant (Bharadwaj 2000, Jaijo 2007, Le Quesne Stabej 2012). T his variant has also been identified in 1/22234 Finnish and 1/110588 European c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit; dbSNP rs369125667). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carri er frequency for Usher syndrome. Computational prediction tools and conservation analyses suggest that this variant may impact the protein. In summary, this va riant meets criteria to be classified as pathogenic for autosomal recessive Ushe r syndrome based on the information described above.

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