ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.950G>T (p.Gly317Val)

gnomAD frequency: 0.00007  dbSNP: rs775632403
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728316 SCV000855871 uncertain significance not provided 2017-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001340495 SCV001534309 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 317 of the CC2D2A protein (p.Gly317Val). 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: 593314). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002533088 SCV003586810 uncertain significance Inborn genetic diseases 2021-10-27 criteria provided, single submitter clinical testing The c.950G>T (p.G317V) alteration is located in exon 11 (coding exon 9) of the CC2D2A gene. This alteration results from a G to T substitution at nucleotide position 950, causing the glycine (G) at amino acid position 317 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036045 SCV005660510 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-05-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733023 SCV005345699 uncertain significance CC2D2A-related disorder 2024-06-21 no assertion criteria provided clinical testing The CC2D2A c.950G>T variant is predicted to result in the amino acid substitution p.Gly317Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD. 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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