ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.85A>G (p.Asn29Asp)

gnomAD frequency: 0.00003  dbSNP: rs967611155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002864179 SCV003621886 uncertain significance Inborn genetic diseases 2022-05-06 criteria provided, single submitter clinical testing The c.85A>G (p.N29D) alteration is located in exon 2 (coding exon 2) of the ITGB3 gene. This alteration results from a A to G substitution at nucleotide position 85, causing the asparagine (N) at amino acid position 29 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021708 SCV005644191 uncertain significance Myocardial infarction, susceptibility to; Glanzmann thrombasthenia 2; Bleeding disorder, platelet-type, 24 2024-04-12 criteria provided, single submitter clinical testing

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