ClinVar Miner

Submissions for variant NM_031448.6(C19orf12):c.371dup (p.Met124fs)

dbSNP: rs1568326754
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784918 SCV000923459 likely pathogenic Neurodegeneration with brain iron accumulation 4 2019-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000784918 SCV001430055 pathogenic Neurodegeneration with brain iron accumulation 4 2019-07-23 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814233 SCV001755150 likely pathogenic Abnormal central motor function 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV002469288 SCV002765202 likely pathogenic not provided 2022-06-17 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the last 18 amino acids are replaced with 16 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23166001)

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