ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3533T>C (p.Ile1178Thr)

gnomAD frequency: 0.00001  dbSNP: rs376674451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002014490 SCV002230281 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1178 of the CC2D2A protein (p.Ile1178Thr). This variant is present in population databases (rs376674451, gnomAD 0.007%). 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: 1449351). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481213 SCV004226979 uncertain significance not provided 2023-04-27 criteria provided, single submitter clinical testing PP3

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