ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2019G>C (p.Glu673Asp)

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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 RCV003090826 SCV003468837 uncertain significance Glanzmann thrombasthenia 2022-09-05 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 673 of the ITGA2B protein (p.Glu673Asp).
Ambry Genetics RCV003084046 SCV003702068 uncertain significance Inborn genetic diseases 2022-10-12 criteria provided, single submitter clinical testing The c.2019G>C (p.E673D) alteration is located in exon 20 (coding exon 20) of the ITGA2B gene. This alteration results from a G to C substitution at nucleotide position 2019, causing the glutamic acid (E) at amino acid position 673 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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