ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1679G>T (p.Cys560Phe)

dbSNP: rs1064797073
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenePathDx, GenePath diagnostics RCV000487430 SCV000574536 likely pathogenic Deficiency of ferroxidase 2017-02-01 criteria provided, single submitter clinical testing 25 years old, suspected case of Aceruloplasminemia. Next generation DNA sequencing ofperipheral blood sample has revealed the presence of two homozygous variants in the CP gene. The c.1652C>T variant is being classified as a ‘Variant of Unknown Significance, likely benign’, while the c.1679G>T variant is being classified as a ‘Variant of Unknown Significance, likely pathogenic’ based on available evidence in the databases and in silico mutation prediction methods.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689759 SCV005184795 uncertain significance not specified 2024-05-13 criteria provided, single submitter clinical testing Variant summary: CP c.1679G>T (p.Cys560Phe) 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 was absent in 251144 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1679G>T has been reported in the literature in at least 1 homozygous individual affected with Neurodegeneration With Brain Iron Accumulation (example, Vila Cuenca_2020). This report does not provide unequivocal conclusions about association of the variant with Neurodegeneration With Brain Iron Accumulation. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 32235485).ClinVar contains an entry for this variant (Variation ID: 424620). Based on the evidence outlined above, the variant was classified as uncertain significance.

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