ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.3206C>A (p.Thr1069Lys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003115503 SCV003788052 uncertain significance Immunodeficiency, common variable, 7 2022-08-06 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with CR2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 1069 of the CR2 protein (p.Thr1069Lys).
Ambry Genetics RCV003384356 SCV004091969 uncertain significance Inborn genetic diseases 2023-08-19 criteria provided, single submitter clinical testing The c.3206C>A (p.T1069K) alteration is located in exon 19 (coding exon 19) of the CR2 gene. This alteration results from a C to A substitution at nucleotide position 3206, causing the threonine (T) at amino acid position 1069 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003115503 SCV004180458 uncertain significance Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing

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