ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.884T>C (p.Leu295Pro)

dbSNP: rs1926588125
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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 RCV001245402 SCV001418688 likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2019-10-09 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 has been reported to affect BTK protein function (PMID: 11206059). This variant has been observed in individuals affected with clinical features of X-linked agammaglobulinemia (PMID: 8723128, 9445504, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 295 of the BTK protein (p.Leu295Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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