ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1901G>C (p.Trp634Ser)

dbSNP: rs1926352588
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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 RCV001057527 SCV001222025 likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2019-04-18 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. This variant disrupts the p.Trp634 amino acid residue in BTK. Other variant(s) that disrupt this residue have been observed in individuals with BTK-related conditions (PMID: 27512878, 25777788), 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 (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 been observed in an individual affected with X-linked agammaglobulinemia (PMID: 12655572). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with serine at codon 634 of the BTK protein (p.Trp634Ser). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and serine.

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