ClinVar Miner

Submissions for variant NM_001286577.2(C2CD3):c.2663G>A (p.Arg888Gln)

gnomAD frequency: 0.00020  dbSNP: rs143196767
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413629 SCV000492182 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing The R888Q variant in the C2CD3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R888Q variant is observed in 3/11558 (0.026%) alleles from individuals of Latino background and in 14/66664 (0.021%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The R888Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R888Q as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000413629 SCV002149893 likely benign not provided 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022176 SCV004914530 uncertain significance Inborn genetic diseases 2024-12-06 criteria provided, single submitter clinical testing The c.2663G>A (p.R888Q) alteration is located in exon 15 (coding exon 15) of the C2CD3 gene. This alteration results from a G to A substitution at nucleotide position 2663, causing the arginine (R) at amino acid position 888 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000413629 SCV005190461 uncertain significance not provided criteria provided, single submitter not provided

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