ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1684C>T (p.Arg562Trp)

dbSNP: rs128621204
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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 RCV000816209 SCV000956706 pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 562 of the BTK protein (p.Arg562Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with X-linked agammaglobulinemia (PMID: 7880320, 11742281, 16951917, 17765309, 19904586). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 11383). 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.
OMIM RCV000012136 SCV000032370 pathogenic X-linked agammaglobulinemia 1994-10-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000581337 SCV000692198 pathogenic Autosomal recessive agammaglobulinemia 1 2011-08-31 no assertion criteria provided clinical testing

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