ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) (rs111033403)

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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 RCV000036132 SCV000059784 likely pathogenic Rare genetic deafness 2013-11-18 criteria provided, single submitter clinical testing The His133Tyr variant in MYO7A has been reported in three individuals with Usher syndrome (Le Guedard-Mereuze 2010, Roux 2011, LMM unpublished data), and was no t identified in large population studies. All three individuals were compound he terozygous for a second pathogenic MYO7A variant. In addition, computational ana lyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, an d SIFT) suggest that the variant may impact the protein. In summary, the His133T yr variant is likely to be pathogenic, though additional studies are required to fully establish its clinical significance.

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