ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.370A>T (p.Ser124Cys)

dbSNP: rs1651406974
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204490 SCV001375698 uncertain significance Immunodeficiency 25 2019-07-25 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 124 of the CD247 protein (p.Ser124Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with CD247-related conditions. This variant is not present in population databases (ExAC no frequency).

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