ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.305T>C (p.Phe102Ser)

dbSNP: rs2147444867
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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 RCV001910950 SCV002162427 likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2022-11-13 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BTK protein function. ClinVar contains an entry for this variant (Variation ID: 1391246). This missense change has been observed in individual(s) with clinical features of agammaglobulinemia (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 102 of the BTK protein (p.Phe102Ser).

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