ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.1399C>G (p.Pro467Ala)

gnomAD frequency: 0.00060  dbSNP: rs199717745
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000887266 SCV001030815 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV002279733 SCV002567956 likely benign Intellectual disability, autosomal recessive 3 2022-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390867 SCV002702277 likely benign Inborn genetic diseases 2021-11-08 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.
PreventionGenetics, part of Exact Sciences RCV003948381 SCV004762481 likely benign CC2D1A-related disorder 2024-01-17 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).

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