ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.829C>T (p.Pro277Ser)

gnomAD frequency: 0.00002  dbSNP: rs782411291
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036082 SCV001199430 uncertain significance Agammaglobulinemia 4, autosomal recessive 2019-11-25 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 277 of the BLNK protein (p.Pro277Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs782411291, ExAC 0.001%). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BLNK-related conditions.

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