ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)

gnomAD frequency: 0.00051  dbSNP: rs188891842
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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) RCV000263818 SCV000342706 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765761 SCV000897149 uncertain significance COACH syndrome 1; Meckel syndrome, type 6; Joubert syndrome 9 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001081652 SCV001000835 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000263818 SCV001784329 uncertain significance not provided 2023-03-18 criteria provided, single submitter clinical testing 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; This variant is associated with the following publications: (PMID: 28518168)
Ambry Genetics RCV002521992 SCV003701631 likely benign Inborn genetic diseases 2022-02-14 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 RCV004543114 SCV004766603 likely benign CC2D2A-related disorder 2023-02-07 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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