ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2122G>A (p.Gly708Ser)

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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 RCV005087656 SCV005725723 pathogenic Neurodegeneration with brain iron accumulation 2024-11-26 criteria provided, single submitter clinical testing Variant summary: CP c.2122G>A (p.Gly708Ser) results in a non-conservative amino acid change in 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 251334 control chromosomes (gnomAD). c.2122G>A has been reported in the literature in multiple homozygous individuals affected with Aceruloplasminaemia (Lindner_2015, Furashova_2023). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 25089372, 34014900). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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