ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.232C>T (p.Gln78Ter)

dbSNP: rs1603019535
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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 RCV000814965 SCV000955404 pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2022-06-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 658193). This premature translational stop signal has been observed in individual(s) with X-linked recessive agammaglobulinemia (PMID: 8090769). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln78*) in the BTK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BTK are known to be pathogenic (PMID: 15661032, 16862044, 19419768).

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