ClinVar Miner

Submissions for variant NM_000049.3(ASPA):c.454T>C (p.Cys152Arg) (rs104894548)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002724 SCV000022882 pathogenic Spongy degeneration of central nervous system 1995-01-01 no assertion criteria provided literature only
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000002724 SCV000778443 pathogenic Spongy degeneration of central nervous system 2012-10-22 no assertion criteria provided clinical testing The observed variant c.454T>C (p.Cys152Arg) is not reported in 1000 Genomes and ExAC databases. The in silico prediction of the variant is disease causing by MutationTaster2, damaging by SIFT and probably damaging by PolyPhen2.

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