ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.70C>T (p.Arg24Ter)

gnomAD frequency: 0.00003  dbSNP: rs887921636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599187 SCV000709865 uncertain significance not provided 2015-03-26 criteria provided, single submitter clinical testing The R24X variant in the CCDC78 gene has been not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R24X variant was not observed in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R24X as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000819152 SCV000959796 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg24*) in the CCDC78 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CCDC78 cause disease. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CCDC78-related conditions. ClinVar contains an entry for this variant (Variation ID: 503661). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000819152 SCV003829357 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2022-08-19 criteria provided, single submitter clinical testing

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