ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00001  dbSNP: rs768740042
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001930672 SCV002193565 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2022-05-27 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the CCDC78 mRNA. The next in-frame methionine is located at codon 152. This variant is present in population databases (rs768740042, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CCDC78-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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