ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1844G>T (p.Arg615Leu)

dbSNP: rs1901797830
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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 RCV001061157 SCV001225890 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2019-02-25 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. This variant disrupts the p.Arg615 amino acid residue in BTK. Other variant(s) that disrupt this residue have been observed in individuals with BTK-related conditions (PMID: 12217331, 11742281, 16943681), which suggests that this may be a clinically significant amino acid residue. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BTK-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with leucine at codon 615 of the BTK protein (p.Arg615Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine.

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