ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.436-2A>G

gnomAD frequency: 0.00001  dbSNP: rs778608633
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061852 SCV001226611 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2023-04-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 856401). 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. This variant has not been reported in the literature in individuals affected with CCDC78-related conditions. This sequence change affects an acceptor splice site in intron 4 of the CCDC78 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), 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 (rs778608633, gnomAD 0.002%).

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