ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.199C>T (p.Pro67Ser)

dbSNP: rs1553846331
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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 RCV000655895 SCV000747735 pathogenic Congenital myasthenic syndrome 10 2018-03-01 no assertion criteria provided clinical testing The observed variant c.199C>T (p.P67S) is not reported in 1000 Genomes and ExAC databases. The in silico prediction of the variant is disease causing by MutationTaster2, tolerated by SIFT, and probably damaging by PolyPhen2.

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