ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1344-2A>G (rs111033415)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665311 SCV000789408 pathogenic Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-02-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036047 SCV000059699 pathogenic Rare genetic deafness 2017-09-12 criteria provided, single submitter clinical testing The c.1344-2A>G variant in MYO7A has been reported in four individuals with Ushe r syndrome (Maubaret 2005, LMM data). One of them was homozygous for the variant and three other individuals were compound heterozygous with a second pathogenic MYO7A variant. This variant has not been identified in large population studies . In addition, this variant occurs in the invariant region (+/- 1/2) of the spli ce consensus sequence and is predicted to cause altered splicing leading to an a bnormal or absent protein. In summary, this variant meets criteria to be classif ied as pathogenic for Usher syndrome in an autosomal recessive manner.

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