ClinVar Miner

Submissions for variant NM_000174.4(GP9):c.182A>G (p.Asn61Ser) (rs5030764)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000761618 SCV000891711 pathogenic Macrothrombocytopenia 2019-03-22 no assertion criteria provided clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000275909 SCV000536920 likely pathogenic Bernard Soulier syndrome 2016-02-21 no assertion criteria provided research
Fulgent Genetics,Fulgent Genetics RCV000275909 SCV000893631 likely pathogenic Bernard Soulier syndrome 2018-10-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000275909 SCV000784694 not provided Bernard Soulier syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000275909 SCV000440790 pathogenic Bernard Soulier syndrome 2017-08-28 criteria provided, single submitter clinical testing The GP9 c.182A>G (p.Asn61Ser) missense variant has been reported in four studies in which it is found in a total of ten individuals with bleeding abnormalities characteristic of Bernard-Soulier syndrome, including in six in a homozygous state and in four (including three siblings) in a compound heterozygous state (Wright et al. 1993; Clemetson et al. 1994; Sachs et al. 2003; Bragadottir et al. 2015). The variant was also found in a heterozygous state in six unaffected family members. The p.Asn61Ser variant was absent from 208 control alleles and is reported at a frequency of 0.001073 in the non-Finnish European population of the Exome Aggregation Consortium. Based on the evidence, the p.Asn61Ser variant is classified as pathogenic for Bernard-Soulier syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000275909 SCV000899314 pathogenic Bernard Soulier syndrome 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851932 SCV000899315 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000761618 SCV000899316 pathogenic Macrothrombocytopenia 2019-02-01 criteria provided, single submitter research
OMIM RCV000014484 SCV000034735 pathogenic Bernard-Soulier syndrome type C 2003-10-01 no assertion criteria provided literature only

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