ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.557dup (p.Pro187fs)

dbSNP: rs864321665
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691136 SCV000818879 pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2018-04-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro187Alafs*7) in the BTK gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with X-linked agammaglobulinemia (PMID: 9143921, 7849697). ClinVar contains an entry for this variant (Variation ID: 11358). This variant is also known as insA [684-689] and A insertion at codon 186 in the literature. Loss-of-function variants in BTK are known to be pathogenic (PMID: 15661032, 16862044, 19419768). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012111 SCV000032345 pathogenic X-linked agammaglobulinemia 1994-10-01 no assertion criteria provided literature only
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" RCV000012111 SCV002573434 pathogenic X-linked agammaglobulinemia 2022-05-01 no assertion criteria provided clinical testing

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