ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp) (rs1598380253)

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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 RCV000003031 SCV001397477 likely pathogenic Glanzmann thrombasthenia 2020-09-06 reviewed by expert panel curation The NM_000419.5:c.1346G>A variant that results in the Gly449Asp amino acid change is reported in one homozygous individual in the literature (PMID: 7508443). It is absent in population databases and is predicted damaging by in-silico tools. Experimental evidence shows the variant results in lack of surface expression of the alphaIIb-beta3 complex. In summary, based on the available evidence at this time, the Gly449Asp variant is classified as likely pathogenic. GT-specific criteria applied: PM2_Supporting, PP3, PP4_moderate, PS3_Supporting and PM3_Supporting.
OMIM RCV000003031 SCV000023189 pathogenic Glanzmann thrombasthenia 2021-04-13 no assertion criteria provided literature only

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