ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.2508G>C (p.Glu836Asp)

gnomAD frequency: 0.00076  dbSNP: rs34146052
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514402 SCV000609764 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514402 SCV001046667 likely benign not provided 2024-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431473 SCV002740861 uncertain significance Inborn genetic diseases 2018-11-30 criteria provided, single submitter clinical testing The p.E836D variant (also known as c.2508G>C), located in coding exon 24 of the CC2D1A gene, results from a G to C substitution at nucleotide position 2508. The glutamic acid at codon 836 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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