ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) (rs782252317)

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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 RCV000154329 SCV000203991 pathogenic Rare genetic deafness 2016-06-23 criteria provided, single submitter clinical testing The p.Gly25Arg variant in MYO7A has now been identified in the compound heterozy gous state in six individuals with clinical features of Usher syndrome type I a nd segregated with disease in two affected siblings in one family (Liu 1997, Lev y 1997, Le Quesne Stabej 2012, Gao 2014, Lenarduzzi 2015, LMM data). It has been identified in 2/55510 European chromosomes by the Exome Aggregation Consortium (ExAC, Although this variant has been identifie d in the general population, its frequency is low enough to be consistent with t he carrier frequency. In summary, this variant meets our criteria to be classifi ed as pathogenic for autosomal recessive Usher syndrome.
Counsyl RCV000674570 SCV000799928 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-05-14 criteria provided, single submitter clinical testing

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