ClinVar Miner

Submissions for variant NM_000031.6(ALAD):c.520C>T (p.Arg174Cys) (rs758622234)

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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 RCV000663361 SCV000784589 uncertain significance Porphobilinogen synthase deficiency 2018-07-10 no assertion criteria provided clinical testing The observed variant c.520C>T is not observed in 1000 Genomes. Its minor allele frequency in ExAC database is 0.0000248. The in silico prediction of the given variant is diseases causing by MutationTaster2, damaging by SIFT and probably damaging by PolyPhen2.

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