ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.4375C>T (p.Arg1459Cys) (rs72547524)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455869 SCV000538212 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Hu 2003 reported the R1459C variant in a family with AD segregation of pseudoxanthoma elasticum. Pomozi-2014 carried out functional studies and showed that in mouse hepatocytes the variant was active (suggesting polymorphism). However, this variant could not rescue the zebrafish phenotype (suggesting deleterious variant).1/15798 South Asian alleles in ExAC.
OMIM RCV000006955 SCV000027151 pathogenic Pseudoxanthoma elasticum 2004-05-01 no assertion criteria provided literature only

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