ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5327-11A>G (rs397516316)

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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 RCV000036185 SCV000059837 likely pathogenic Rare genetic deafness 2014-11-02 criteria provided, single submitter clinical testing The p.5327-11A>G variant in MYO7A has been identified by our laboratory in one i ndividual with a clinical diagnosis of Usher syndrome type I, who carried a seco nd pathogenic variant in the same gene. It was absent from large population stud ies. This variant is located in the 3' splice region but does not affect the inv ariant -1 and -2 positions. However, positions -3 and -5 to -12 are part of the splicing consensus sequence and variants involving these positions sometimes aff ect splicing. Although position -11 of the major splice consensus sequence is ty pically a T or C, this intron better matches a minor splice consensus sequence w hich very rarely has a G at -11. Therefore, this variant could impact splicing a nd lead to a disrupted transcript. In summary, although additional studies are r equired to fully establish its clinical significance, the p.5327-11A>G variant i s likely pathogenic.

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