ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1868C>T (p.Ser623Leu)

dbSNP: rs1926354581
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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 RCV001042408 SCV001206086 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2019-05-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed to segregate with X-linked agammaglobulinemia in families (PMID: 12655572, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 623 of the BTK protein (p.Ser623Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine.
GeneDx RCV003153903 SCV003842563 likely pathogenic not provided 2022-09-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 12655572, 18677443)

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