ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.560T>C (p.Val187Ala)

dbSNP: rs2048639767
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001126257 SCV002820906 uncertain significance Glanzmann thrombasthenia 2022-11-15 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.560T>C variant in ITGA2B is a missense variant predicted to cause substitution of Valine by Alanine at amino acid 187. This variant was observed as part of a predisposition screen in an ostensibly healthy population by Illumina. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, this variant meets the criteria to be classified as Uncertain significance - insufficient evidence for autosomal recessive inheritance of Glanzmann thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM2_Supporting (VCEP specifications version 2.1).
Illumina Laboratory Services, Illumina RCV001126257 SCV001285426 uncertain significance Glanzmann thrombasthenia 2017-04-27 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.

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