ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln)

gnomAD frequency: 0.00069  dbSNP: rs201251295
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193248 SCV000246886 uncertain significance not specified 2014-12-31 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000612390 SCV000745270 uncertain significance Intellectual disability, autosomal recessive 3 2016-06-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314794 SCV000848149 likely benign Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV003556244 SCV004305203 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937685 SCV004750610 likely benign CC2D1A-related disorder 2023-02-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000612390 SCV000733854 uncertain significance Intellectual disability, autosomal recessive 3 no assertion criteria provided clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252183 SCV001427933 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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