ClinVar Miner

Submissions for variant NM_000755.5(CRAT):c.962G>A (p.Arg321His) (rs138665095)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale RCV000709992 SCV000678259 pathogenic Neurodegeneration with brain iron accumulation 2016-05-02 criteria provided, single submitter research The homozygous c.962G>A variant (p.Arg321His) in CRAT is a rare SNP (rs138665095, ExAc: A=0.0042%) that has never been reported to be homozygous in the control population. It alters a highly conserved amino acid residue. The variant was absent from 110 NBIA subject and 200 control chromosomes.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000594657 SCV000966148 likely pathogenic Neurodegeneration with brain iron accumulation 8 2018-10-29 criteria provided, single submitter clinical testing Observed as a homozygote.
OMIM RCV000594657 SCV000709669 pathogenic Neurodegeneration with brain iron accumulation 8 2018-03-27 no assertion criteria provided literature only

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