ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp)

gnomAD frequency: 0.00001  dbSNP: rs372873919
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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) RCV000173727 SCV000224875 uncertain significance not provided 2018-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001229663 SCV001402116 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 278 of the CC2D2A protein (p.Arg278Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs372873919, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 193620). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002485120 SCV002784662 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2021-10-07 criteria provided, single submitter clinical testing

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