ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4460G>A (p.Arg1487His)

gnomAD frequency: 0.00006  dbSNP: rs971832306
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732101 SCV000860007 uncertain significance not provided 2018-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001364261 SCV001560396 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-22 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 1487 of the CC2D2A protein (p.Arg1487His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 596313). 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 with a negative predictive value of 95%. 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.
Ambry Genetics RCV004027026 SCV004918758 uncertain significance Inborn genetic diseases 2023-11-06 criteria provided, single submitter clinical testing The c.4460G>A (p.R1487H) alteration is located in exon 36 (coding exon 34) of the CC2D2A gene. This alteration results from a G to A substitution at nucleotide position 4460, causing the arginine (R) at amino acid position 1487 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036067 SCV005664602 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-04-01 criteria provided, single submitter clinical testing

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