ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=)

dbSNP: rs886053007
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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 RCV000377589 SCV004037420 likely benign Glanzmann thrombasthenia 2023-09-07 reviewed by expert panel curation The c.1014G>A variant is a synonymous (silent) variant (p.Leu338=) that is not predicted by SpliceAI to impact splicing (BP4). In addition, it occurs at a nucleotide that is not conserved as shown by phyloP score of 1.464 (BP7). It was identified as part of a predisposition screen in an ostensibly healthy population and has not been reported in association with Glanzmann Thrombasthenia in the literature. This variant was not reported in the GT database or HGMD. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, this variant is classified as likely benign for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD-VCEP: PM2_supporting, BP4, BP7. (VCEP specifications version 2; date of approval)
Illumina Laboratory Services, Illumina RCV000377589 SCV000403380 uncertain significance Glanzmann thrombasthenia 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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