ClinVar Miner

Submissions for variant NM_025233.7(COASY):c.492del (p.Glu164fs)

dbSNP: rs2143196984
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271905 SCV002556127 likely pathogenic Neurodegeneration with brain iron accumulation 2022-06-23 criteria provided, single submitter clinical testing Variant summary: COASY c.492delG (p.Glu164AspfsX63) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncation variants in COASY have been reported in HGMD and ClinVar. The variant was absent in 251212 control chromosomes (gnomAD). To our knowledge, no occurrence of c.492delG in individuals affected with Neurodegeneration With Brain Iron Accumulation and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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