ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.470+1G>A (rs797044510)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666967 SCV000791346 pathogenic Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-05-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154316 SCV000203978 pathogenic Rare genetic deafness 2014-08-19 criteria provided, single submitter clinical testing The 470+1G>A variant in MYO7A has been reported in the homozygous state in one i ndividual with Usher syndrome and segregated with disease in one affected siblin g (Adato 1997). It has not been identified in large population studies. This var iant occurs in the invariant region (+/- 1/2) of the splice consensus sequence a nd is predicted to cause altered splicing leading to an abnormal or absent prote in. In summary, this variant meets our criteria to be classified as pathogenic ( http://personalizedmedicine.partners.org/Laboratory-For-Molecular-Medicine).

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