ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) (rs184866544)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155225 SCV000204911 likely benign not specified 2015-05-17 criteria provided, single submitter clinical testing p.Lys268Arg in exon 8 of MYO7A: This variant was reported in one individual with Usher syndrome type 2 but did not segregate in an affected sibling (Bonnet 2011 ). In addition, this variant was identified in 0.2% (100/53924) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs184866544). Furthermore, the lysine (Lys) residue at this position is not conserved in mammals and evolutionary distant species with two mammals, hor se and dolphin, having an arginine (Arg) at this position. In summary, this vari ant is not expected to have clinical significance based on lack of segregation w ith disease, the frequency of the variant in the general population, and conserv ation data.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724234 SCV000232497 uncertain significance not provided 2014-11-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724234 SCV001148372 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing

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