ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.57G>T (p.Ala19=)

gnomAD frequency: 0.00344  dbSNP: rs534654534
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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 RCV000269300 SCV003915991 benign Glanzmann thrombasthenia 2023-03-21 reviewed by expert panel curation After a comprehensive literature search of the synonymous variant NM_000212.3(ITGB3):c.57G>T (p.Ala19=), no individuals with Glanzmann thrombasthenia were reported with the variant. This variant was observed by Ilumina as part of a predisposition screen in an ostensibly healthy population. Moreover, the variant has a minor allele frequency of 0.01423 (144/10122 alleles) in gnomAD, found in the African/African American population, which is considerably higher than the expected frequency of the disease (BA1). In silico predictor spliceAI revealed that the synonymous mutation is not expected to impact splicing and a PhyloP score of 0.669 shows that the nucleotide position is not highly conserved (BP4, BP7). In summary, this variant meets the criteria to be classified as Benign for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: BA1, BP4, BP7 (PD VCEP specifications version 2.1).
Illumina Laboratory Services, Illumina RCV000269300 SCV000403730 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000882901 SCV001026165 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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