ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.28A>G (p.Arg10Gly)

gnomAD frequency: 0.00001  dbSNP: rs769964986
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002108665 SCV002433656 likely benign Congenital myopathy with internal nuclei and atypical cores 2022-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046471 SCV004919054 uncertain significance Inborn genetic diseases 2023-10-05 criteria provided, single submitter clinical testing The c.28A>G (p.R10G) alteration is located in exon 1 (coding exon 1) of the CCDC78 gene. This alteration results from a A to G substitution at nucleotide position 28, causing the arginine (R) at amino acid position 10 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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