ClinVar Miner

Submissions for variant NM_025233.7(COASY):c.1068_1069del (p.Cys357fs)

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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 RCV002302576 SCV002598966 pathogenic Neurodegeneration with brain iron accumulation 2024-08-08 criteria provided, single submitter clinical testing Variant summary: COASY c.1068_1069delAT (p.Cys357SerfsX30) 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. The variant allele was found at a frequency of 1.7e-05 in 179322 control chromosomes. To our knowledge, no occurrence of c.1068_1069delAT in individuals affected with Neurodegeneration With Brain Iron Accumulation and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1722462). Based on the evidence outlined above, the variant was classified as pathogenic.

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