ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2053A>G (p.Lys685Glu)

gnomAD frequency: 0.00001  dbSNP: rs879877075
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731673 SCV000859518 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001070001 SCV001235207 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-08-27 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 685 of the CC2D2A protein (p.Lys685Glu). This variant is present in population databases (no rsID available, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 595980). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CC2D2A protein function with a negative predictive value of 95%. 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 RCV004965720 SCV005551330 uncertain significance Inborn genetic diseases 2024-07-30 criteria provided, single submitter clinical testing The c.2053A>G (p.K685E) alteration is located in exon 18 (coding exon 16) of the CC2D2A gene. This alteration results from a A to G substitution at nucleotide position 2053, causing the lysine (K) at amino acid position 685 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004535849 SCV004720219 uncertain significance CC2D2A-related disorder 2024-02-16 no assertion criteria provided clinical testing The CC2D2A c.2053A>G variant is predicted to result in the amino acid substitution p.Lys685Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0076% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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