ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.728A>T (p.Asp243Val)

gnomAD frequency: 0.00017  dbSNP: rs368883636
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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 RCV000692891 SCV000820739 uncertain significance Immunodeficiency, common variable, 7 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 243 of the CR2 protein (p.Asp243Val). This variant is present in population databases (rs368883636, gnomAD 0.09%). 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: 571680). 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: "Tolerated"; 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.
Ambry Genetics RCV002532227 SCV003537631 uncertain significance Inborn genetic diseases 2022-09-22 criteria provided, single submitter clinical testing The c.728A>T (p.D243V) alteration is located in exon 4 (coding exon 4) of the CR2 gene. This alteration results from a A to T substitution at nucleotide position 728, causing the aspartic acid (D) at amino acid position 243 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000692891 SCV004180410 uncertain significance Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing

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