ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.389G>A (p.Arg130His)

gnomAD frequency: 0.00003  dbSNP: rs778519147
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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) RCV000733459 SCV000861531 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000802654 SCV000942495 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-12-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 130 of the CC2D2A protein (p.Arg130His). This variant is present in population databases (rs778519147, gnomAD 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: 597365). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CC2D2A 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 RCV005036070 SCV005660491 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-06-11 criteria provided, single submitter clinical testing

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