ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1441T>A (p.Cys481Ser)

dbSNP: rs1057519826
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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 RCV001243609 SCV001416777 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2019-10-25 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature as a germline variant in individuals with BTK-related conditions. ClinVar contains an entry for this variant (Variation ID: 376204). This sequence change replaces cysteine with serine at codon 481 of the BTK protein (p.Cys481Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is not present in population databases (ExAC no frequency).
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269602 SCV001449699 pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001269602 SCV005411466 uncertain significance not provided 2023-11-22 criteria provided, single submitter clinical testing PP2, PM1, PM2

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