ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.844C>G (p.Arg282Gly)

dbSNP: rs747752625
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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 RCV002026315 SCV002301300 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2021-07-26 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CCDC78-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 282 of the CCDC78 protein (p.Arg282Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. 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.
Ambry Genetics RCV002550427 SCV003599167 uncertain significance Inborn genetic diseases 2021-12-17 criteria provided, single submitter clinical testing The c.844C>G (p.R282G) alteration is located in exon 9 (coding exon 9) of the CCDC78 gene. This alteration results from a C to G substitution at nucleotide position 844, causing the arginine (R) at amino acid position 282 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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