ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.49C>A (p.Gln17Lys)

gnomAD frequency: 0.00001  dbSNP: rs782515867
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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 RCV001895536 SCV002152036 uncertain significance Agammaglobulinemia 4, autosomal recessive 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 17 of the BLNK protein (p.Gln17Lys). This variant is present in population databases (rs782515867, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BLNK-related conditions. ClinVar contains an entry for this variant (Variation ID: 1383827). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV003164298 SCV003863468 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.49C>A (p.Q17K) alteration is located in exon 2 (coding exon 2) of the BLNK gene. This alteration results from a C to A substitution at nucleotide position 49, causing the glutamine (Q) at amino acid position 17 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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