ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.112A>G (p.Ile38Val)

dbSNP: rs749227138
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036000 SCV001199340 uncertain significance Immunodeficiency 25 2023-08-04 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 38 of the CD247 protein (p.Ile38Val). This variant is present in population databases (rs749227138, gnomAD no frequency). 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: 835176). 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.

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