ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) (rs111033259)

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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 RCV000036150 SCV000059802 pathogenic Rare genetic deafness 2011-07-07 criteria provided, single submitter clinical testing The Glu1515_Met1517delinsAla variant in MYO7A has been identified in three proba nds with Usher syndrome (personal communication, W. Kimberling and two in our la boratory). The variant replaces three amino acids with a single new amino acid a nd is therefore likely to impact protein function. In addition, two probands hav e a second pathogenic variant in MYO7A which further supports a causative role. And finally, one proband?s affected sibling was also found to harbor both the 64 39-2A>G variant and this MYO7A variant and parental testing showed the variants were in trans (on two separate copies of the gene). In summary, this data suppor ts the classification of this variant as pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725794 SCV000339454 likely pathogenic not provided 2016-02-01 criteria provided, single submitter clinical testing

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