ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.274G>A (p.Ala92Thr)

gnomAD frequency: 0.00001  dbSNP: rs782493817
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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 RCV001929636 SCV002202209 uncertain significance Agammaglobulinemia 4, autosomal recessive 2022-10-13 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1426865). This variant has not been reported in the literature in individuals affected with BLNK-related conditions. This variant is present in population databases (rs782493817, gnomAD 0.04%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 92 of the BLNK protein (p.Ala92Thr). 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 RCV003303425 SCV004004723 uncertain significance Inborn genetic diseases 2023-05-08 criteria provided, single submitter clinical testing The c.274G>A (p.A92T) alteration is located in exon 5 (coding exon 5) of the BLNK gene. This alteration results from a G to A substitution at nucleotide position 274, causing the alanine (A) at amino acid position 92 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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