ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.3999C>A (p.Cys1333Ter)

dbSNP: rs386833785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004609305 SCV005104778 pathogenic Inborn genetic diseases 2024-06-18 criteria provided, single submitter clinical testing The c.3999C>A (p.C1333*) alteration, located in exon 27 (coding exon 27) of the CUBN gene, consists of a C to A substitution at nucleotide position 3999. This changes the amino acid from a cysteine (C) to a stop codon at amino acid position 1333. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049750 SCV000082157 probable-pathogenic Imerslund-Grasbeck syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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