ClinVar Miner

Submissions for variant NM_000096.4(CP):c.656T>A (p.Val219Glu)

gnomAD frequency: 0.00001  dbSNP: rs587780321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116824 SCV000150898 uncertain significance not provided 2014-01-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586553 SCV005077101 likely pathogenic Neurodegeneration with brain iron accumulation 2024-04-22 criteria provided, single submitter clinical testing Variant summary: CP c.656T>A (p.Val219Glu) results in a non-conservative amino acid change located in the Multicopper oxidase, second cupredoxin domain (IPR001117) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251114 control chromosomes. c.656T>A has been reported in the literature in multiple individuals affected with Neurodegeneration With Brain Iron Accumulation (Lobbes_2022). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 35585918). ClinVar contains an entry for this variant (Variation ID: 128844). Based on the evidence outlined above, the variant was classified as likely pathogenic.

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