ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.34G>T (p.Gly12Ter)

gnomAD frequency: 0.00001  dbSNP: rs1014643433
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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 RCV001953353 SCV002219932 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2021-04-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly12*) 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 not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CCDC78-related conditions. 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.

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