ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.858C>T (p.Val286=)

gnomAD frequency: 0.00004  dbSNP: rs376672078
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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 RCV000378736 SCV001809865 likely benign Glanzmann thrombasthenia 2024-03-07 reviewed by expert panel curation NM_000419.5(ITGA2B):c.858C>T (p.Val286=) is a rare synonymous variant. The highest population minor allele frequency in gnomAD v4.0 is 0.00005254 (64/1179956 alleles) in the European (non-Finnish) population, which is lower than the ClinGen PD VCEP threshold (<0.0001; PM2_Supporting). This variant has not been reported in any affected individuals in published literature but has been reported once in a healthy individual as part of a population screen. In silico splicing tools predict this synonymous variant to have no impact on splicing and this is not a highly conserved nucleotide (BP4, BP7). In summary, this variant meets criteria for PM2_supporting, BP4, and BP7; and is therefore classified as likely benign.
Illumina Laboratory Services, Illumina RCV000378736 SCV000403383 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000378736 SCV004318638 likely benign Glanzmann thrombasthenia 2023-07-26 criteria provided, single submitter clinical testing

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