ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1632G>T (p.Arg544Ser)

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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 RCV003041463 SCV003445099 likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2022-08-25 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant is also known as c.1764G>T (p.R544S). This missense change has been observed in individuals with agammaglobulinemia (PMID: 11438999, 17765309, 27512878). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 544 of the BTK protein (p.Arg544Ser).

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