ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) (rs397516322)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672711 SCV000797845 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-02-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594226 SCV000706352 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036197 SCV000059849 likely pathogenic Rare genetic deafness 2011-03-25 no assertion criteria provided clinical testing The Arg1873Gln variant in MYO7A has been identified in one proband with Usher ty pe I (Cremers 2007). In addition, this residue is highly conserved across evolut ionary distant species and computational analyses (PolyPhen2, SIFT) suggest that the variant may impact the protein. Furthermore, a different variant at the sam e position, Arg1873Trp, has been reported in five probands with Usher syndrome T ype 1 and is classified as pathogenic. In summary, the Arg1873Gln variant is lik ely pathogenic.

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