ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe)

gnomAD frequency: 0.00001  dbSNP: rs756015202
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000655928 SCV000747736 pathogenic Congenital myasthenic syndrome 10 2018-03-01 no assertion criteria provided clinical testing The observed variant c.1061C>T (p.S354F) is not reported in 1000 Genomes and its minor allele frequency in ExAC databases is 0.00003825. The in silico prediction of the variant is disease causing by MutationTaster2, tolerated by SIFT, and benign by PolyPhen2.

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