ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1750+5G>A

dbSNP: rs864321659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000012100 SCV002228895 pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2022-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 8013627). ClinVar contains an entry for this variant (Variation ID: 11347). This variant is also known as 1882+5G>A and IVS17+5G>A. This variant has been observed in individuals with agammaglobulinemia (PMID: 8013627, 14974089, 29709555, 30240888). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 17 of the BTK gene. It does not directly change the encoded amino acid sequence of the BTK protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
OMIM RCV000012100 SCV000032334 pathogenic X-linked agammaglobulinemia with growth hormone deficiency 1994-06-13 no assertion criteria provided literature only

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