ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.187G>C (p.Ala63Pro)

dbSNP: rs55893506
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215028 SCV001386747 uncertain significance Immunodeficiency 25 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 63 of the CD247 protein (p.Ala63Pro). This variant is present in population databases (rs55893506, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CD247-related conditions. ClinVar contains an entry for this variant (Variation ID: 944598). 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 RCV004033952 SCV004922906 uncertain significance not specified 2023-12-11 criteria provided, single submitter clinical testing The c.187G>C (p.A63P) alteration is located in exon 3 (coding exon 3) of the CD247 gene. This alteration results from a G to C substitution at nucleotide position 187, causing the alanine (A) at amino acid position 63 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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