ClinVar Miner

Submissions for variant NM_014694.4(ADAMTSL2):c.493G>A (p.Ala165Thr) (rs764516811)

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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 RCV000627668 SCV000743096 uncertain significance Geleophysic dysplasia 1 2018-04-17 no assertion criteria provided clinical testing The observed variant c.493G>A (p.Ala165Thr) is not reported in 1000 Genomes. Its minor allele frequency in ExAC database is 0.00001661. The in silico prediction of the given variant is disease causing by MutationTaster, Tolerated by SIFT, and probably damaging by PolyPhen.

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