ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.395T>G (p.Phe132Cys)

dbSNP: rs2134020915
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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 RCV001979432 SCV002253213 uncertain significance Agammaglobulinemia 4, autosomal recessive 2023-04-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1465750). 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. 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 BLNK protein function. This variant has not been reported in the literature in individuals affected with BLNK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 132 of the BLNK protein (p.Phe132Cys).

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