ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.527C>T (p.Ala176Val)

gnomAD frequency: 0.00004  dbSNP: rs782568875
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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 RCV001231345 SCV001403865 uncertain significance Agammaglobulinemia 4, autosomal recessive 2022-09-13 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 958224). This variant has not been reported in the literature in individuals affected with BLNK-related conditions. This variant is present in population databases (rs782568875, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 176 of the BLNK protein (p.Ala176Val).
Ambry Genetics RCV004609685 SCV005101948 uncertain significance Inborn genetic diseases 2024-03-18 criteria provided, single submitter clinical testing The c.527C>T (p.A176V) alteration is located in exon 7 (coding exon 7) of the BLNK gene. This alteration results from a C to T substitution at nucleotide position 527, causing the alanine (A) at amino acid position 176 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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