ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.376A>G (p.Asn126Asp)

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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 RCV004586260 SCV005077081 pathogenic Bernard Soulier syndrome 2024-04-22 criteria provided, single submitter clinical testing Variant summary: GP1BA c.376A>G (p.Asn126Asp) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 249218 control chromosomes (gnomAD). c.376A>G has been reported in the literature in individuals affected with Bernard Soulier Syndrome (e.g. Savoia_2011, Vettore_2011). These data indicate that the variant is likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein expression in patient cells, finding a loss of GP1BA protein and mRNA expression, as well as a loss of GP1BB protein (Vettore_2011). The following publications have been ascertained in the context of this evaluation (PMID: 21173099, 21993687). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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