ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4334G>A (p.Arg1445Gln)

gnomAD frequency: 0.00012  dbSNP: rs113065116
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592379 SCV000703926 uncertain significance not provided 2017-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001326524 SCV001517557 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024748 SCV004918755 likely benign Inborn genetic diseases 2023-12-20 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.
GeneDx RCV000592379 SCV005388626 uncertain significance not provided 2024-04-27 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005034164 SCV005664595 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-05-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004732953 SCV005356545 uncertain significance CC2D2A-related disorder 2024-07-18 no assertion criteria provided clinical testing The CC2D2A c.4334G>A variant is predicted to result in the amino acid substitution p.Arg1445Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.073% of alleles in individuals of South Asian descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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