ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.488del (p.Ser163fs)

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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 RCV003531680 SCV004308909 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2023-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser163Thrfs*7) 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 (rs761119447, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected 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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