ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1843C>T (p.Arg615Cys)

dbSNP: rs1603001680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788744 SCV000927969 uncertain significance not provided 2018-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000812568 SCV000952886 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2018-10-10 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BTK-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 615 of the BTK protein (p.Arg615Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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