ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)

dbSNP: rs128620183
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000012095 SCV000052059 pathogenic X-linked agammaglobulinemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001204367 SCV001375572 pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 525 of the BTK protein (p.Arg525Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with X-linked agammaglobulinemia (PMID: 9445504, 11742281, 19039656). In at least one individual the variant was observed to be de novo. This variant is also known as c.1706G>A. ClinVar contains an entry for this variant (Variation ID: 11342). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BTK protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001267912 SCV001446420 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000012095 SCV000032329 pathogenic X-linked agammaglobulinemia 1994-09-13 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000581245 SCV000692195 pathogenic Autosomal recessive agammaglobulinemia 1 2017-02-17 no assertion criteria provided clinical testing

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