ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.1641C>T (p.Cys547=)

gnomAD frequency: 0.00011  dbSNP: rs185135224
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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 RCV002254715 SCV002525904 benign Glanzmann thrombasthenia 2022-04-13 reviewed by expert panel curation The ITGB3 synonymous variant NM_000212.3:c.1641C>T is common in control population databases, occurring at a frequency of 0.3015% in the East Asian population of gnomAD v2.1.1. The c.1641C>T (p.Cys547=) variant is a synonymous variant that is not predicted by SpliceAI to impact splicing (BP4). 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. (VCEP specifications version 2; date of approval 04/07/2022)
Labcorp Genetics (formerly Invitae), Labcorp RCV000863394 SCV001004045 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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