ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.1222A>G (p.Ile408Val)

gnomAD frequency: 0.00001  dbSNP: rs1196012902
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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) RCV000734121 SCV000862237 uncertain significance not provided 2018-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000734121 SCV002578435 uncertain significance not provided 2022-04-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002535366 SCV003281466 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 408 of the CC2D2A protein (p.Ile408Val). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 597869). 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 not 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.
Ambry Genetics RCV002536511 SCV003638924 uncertain significance Inborn genetic diseases 2022-09-07 criteria provided, single submitter clinical testing The c.1222A>G (p.I408V) alteration is located in exon 13 (coding exon 11) of the CC2D2A gene. This alteration results from a A to G substitution at nucleotide position 1222, causing the isoleucine (I) at amino acid position 408 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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