ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.1297C>G (p.Pro433Ala)

gnomAD frequency: 0.00003  dbSNP: rs121918448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001818158 SCV002067435 uncertain significance not specified 2021-07-26 criteria provided, single submitter clinical testing DNA sequence analysis of the ITGB3 gene demonstrated a sequence change, c.1297C>G, in exon 10 that results in an amino acid change, p.Pro433Ala. This sequence change has been described in the gnomAD database with frequency of 0.0046% in the non-Finnish European subpopulation (dbSNP rs121918448). The p.Pro433Ala change affects a highly conserved amino acid residue located in a domain of the ITGB3 protein that is known to be functional. The p.Pro433Ala substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This sequence change has been reported in a case of neonatal alloimmune thrombocytopenia (PMID: 8093349). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Pro433Ala change remains unknown at this time.
OMIM RCV000014525 SCV000034776 benign Mo ALLOANTIGEN POLYMORPHISM 1993-01-01 no assertion criteria provided literature only

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