ClinVar Miner

Submissions for variant NM_000174.5(GP9):c.8_11dup (p.Trp4fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317715 SCV004020488 pathogenic Bernard Soulier syndrome 2023-06-05 criteria provided, single submitter clinical testing Variant summary: GP9 c.8_11dupCCTG (p.Trp4CysfsX70) results in a premature termination codon, predicted to cause a truncation of the encoded protein, which is a commonly known mechanism for disease. While the variant is not expected to result in nonsense-mediated decay, it is expected to disrupt the last 173 amino acids of the protein. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 240980 control chromosomes (gnomAD v2.1). To our knowledge, no occurrence of c.8_11dupCCTG in individuals affected with Bernard Soulier Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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