ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly)

gnomAD frequency: 0.00021  dbSNP: rs747204358
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730827 SCV000858591 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001337842 SCV001531458 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 854 of the CC2D2A protein (p.Trp854Gly). This variant is present in population databases (rs747204358, gnomAD 0.05%). 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: 595312). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CC2D2A protein function. 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.
GeneDx RCV000730827 SCV001825384 uncertain significance not provided 2020-12-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002485885 SCV002789624 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026998 SCV004920448 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.2560T>G (p.W854G) alteration is located in exon 21 (coding exon 19) of the CC2D2A gene. This alteration results from a T to G substitution at nucleotide position 2560, causing the tryptophan (W) at amino acid position 854 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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