ClinVar Miner

Submissions for variant NM_000407.5(GP1BB):c.240_246dup (p.Thr83fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447777 SCV004175522 likely pathogenic Bernard Soulier syndrome 2023-05-26 criteria provided, single submitter clinical testing The GP1BB c.240_246dup variant is classified as Likely Pathogenic (PVS1, PM2) This GP1BB c.240_246dup variant is located in exon 2/2 and is predicted to cause a shift in the reading frame at codon 83 (PVS1). This variant is absent from population databases (PM2). This variant has not been reported in dbSNP, ClinVar or HGMD.

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