ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2519T>C (p.Ile840Thr)

gnomAD frequency: 0.00003  dbSNP: rs373111926
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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) RCV000597851 SCV000703994 uncertain significance not provided 2017-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001348148 SCV001542436 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 840 of the CC2D2A protein (p.Ile840Thr). This variant is present in population databases (rs373111926, gnomAD 0.02%). 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: 498793). 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: "Possibly 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.
GeneDx RCV000597851 SCV002762465 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26415585)
Ambry Genetics RCV003343931 SCV004051622 uncertain significance Inborn genetic diseases 2023-08-16 criteria provided, single submitter clinical testing The c.2519T>C (p.I840T) alteration is located in exon 21 (coding exon 19) of the CC2D2A gene. This alteration results from a T to C substitution at nucleotide position 2519, causing the isoleucine (I) at amino acid position 840 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005027701 SCV005662424 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-06-07 criteria provided, single submitter clinical testing

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