ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1632G>A (p.Gln544=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003501757 SCV004299516 likely benign Glanzmann thrombasthenia 2024-01-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004765891 SCV005380506 likely benign not specified 2024-08-20 criteria provided, single submitter clinical testing Variant summary: ITGA2B c.1632G>A alters a conserved nucleotide resulting in a synonymous change. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-06 in 248442 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1632G>A in individuals affected with ITGA2B-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2737117). Based on the evidence outlined above, the variant was classified as likely benign.

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