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
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.
Counsyl RCV000665311 SCV000789408 pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-02-08 criteria provided, single submitter clinical testing

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