ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.670G>A (p.Asp224Asn)

gnomAD frequency: 0.00026  dbSNP: rs763017753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001124485 SCV004037418 uncertain significance Glanzmann thrombasthenia 2023-09-07 reviewed by expert panel curation The c.670G>A variant in ITGB3 is a missense variant predicted to cause substitution of Aspartic Acid by Asparagine at amino acid 224 (p.Asp224Asn). This variant was observed as part of a predisposition screen in an ostensibly healthy population by Illumina. No ACMG/AMP criteria could be applied to this variant. In summary, this variant meets the criteria to be classified as Uncertain significance - insufficient evidence for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP (VCEP specifications version 2).
Illumina Laboratory Services, Illumina RCV001124485 SCV001283449 uncertain significance Glanzmann thrombasthenia 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002556697 SCV003243837 uncertain significance not provided 2022-04-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 224 of the ITGB3 protein (p.Asp224Asn). This variant is present in population databases (rs763017753, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with ITGB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 890135). 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.

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