ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.3203A>C (p.Asp1068Ala)

gnomAD frequency: 0.00010  dbSNP: rs756904762
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001234731 SCV001407389 uncertain significance Immunodeficiency, common variable, 7 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 1068 of the CR2 protein (p.Asp1068Ala). This variant is present in population databases (rs756904762, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 961095). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Baylor Genetics RCV001234731 SCV001527540 uncertain significance Immunodeficiency, common variable, 7 2018-02-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002567895 SCV003759865 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.3203A>C (p.D1068A) alteration is located in exon 19 (coding exon 19) of the CR2 gene. This alteration results from a A to C substitution at nucleotide position 3203, causing the aspartic acid (D) at amino acid position 1068 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001234731 SCV004180457 uncertain significance Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing

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