ClinVar Miner

Submissions for variant NM_000096.4(CP):c.607+1del

dbSNP: rs753254095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489374 SCV000577358 likely pathogenic not provided 2024-11-13 criteria provided, single submitter clinical testing RNA studies demonstrate a damaging effect and suggest that this variant results in truncated protein product due to exon skipping (PMID: 35314108); Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 35868289, 12879954, 35314108)
Labcorp Genetics (formerly Invitae), Labcorp RCV001856906 SCV002237179 pathogenic Deficiency of ferroxidase 2021-06-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CP-related conditions. This variant is also known as c.607+1del. ClinVar contains an entry for this variant (Variation ID: 426814). This variant is present in population databases (rs753254095, ExAC 0.03%). This sequence change creates a premature translational stop signal (p.Asp203Ilefs*3) in the CP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CP are known to be pathogenic (PMID: 16629161).

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