ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.1761A>C (p.Gln587His)

gnomAD frequency: 0.00010  dbSNP: rs570515282
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996454 SCV001151161 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000996454 SCV001774087 uncertain significance not provided 2020-02-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Identify in a patient with thrombocytopenia in published literature (Johnson et al., 2016); This variant is associated with the following publications: (PMID: 27479822)
Fulgent Genetics, Fulgent Genetics RCV002489496 SCV002799587 uncertain significance Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Nonarteritic anterior ischemic optic neuropathy, susceptibility to; Pseudo von Willebrand disease 2022-02-28 criteria provided, single submitter clinical testing
Birmingham Platelet Group; University of Birmingham RCV001270612 SCV001450911 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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