ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) (rs397516308)

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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 RCV000036140 SCV000059792 pathogenic Rare genetic deafness 2015-12-01 criteria provided, single submitter clinical testing The p.Trp1431X variant in MYO7A has been reported in 1 individual with Usher syn drome (Le Quesne Stabej 2012). It has not bee identified in large population stu dies. This nonsense variant leads to a premature termination codon at position 1 431 which is predicted to lead to a truncated or absent protein. Loss of functio n of the MYO7A gene is an established disease mechanism in Usher syndrome. In s ummary, this variant meets our criteria to be classified as pathogenic for Usher syndrome in an autosomal recessive manner.

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