ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.1775G>A (p.Arg592Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466791 SCV002761448 uncertain significance Pseudo von Willebrand disease 2020-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164725 SCV003869400 uncertain significance Inborn genetic diseases 2023-02-07 criteria provided, single submitter clinical testing The c.1775G>A (p.R592Q) alteration is located in exon 2 (coding exon 1) of the GP1BA gene. This alteration results from a G to A substitution at nucleotide position 1775, causing the arginine (R) at amino acid position 592 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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