ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.243A>G (p.Pro81=)

gnomAD frequency: 0.00004  dbSNP: rs766042434
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731727 SCV000859576 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535237 SCV003261561 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-06-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535850 SCV004713913 uncertain significance CC2D2A-related disorder 2024-01-18 no assertion criteria provided clinical testing The CC2D2A c.349A>G variant is predicted to result in the amino acid substitution p.Thr117Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0046% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-15482447-A-G). 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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