ClinVar Miner

Submissions for variant NM_000407.5(GP1BB):c.119G>A (p.Gly40Glu)

gnomAD frequency: 0.00115  dbSNP: rs375285857
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV002479042 SCV005903396 benign Bernard Soulier syndrome 2025-02-11 reviewed by expert panel curation The NM_000407.5(GP1BB):c.119G>A variant in GP1BB is a missense variant predicted to cause substitution of glycine by glutamate at amino acid 40 (p.Gly40Glu). The Grpmax Filtering allele frequency in gnomAD v4.1 is 0.002267 (based on 133/50540 alleles) in the Admixed American population, which is higher than the ClinGen PD VCEP threshold (>0.001), and therefore meets this criterion (BA1). This variant has not been reported in relation to Bernard-Soulier Syndrome but is a known platelet antigen (HPA-12b, originally reported as Iy(a) in PMID: 10688847). In summary, this variant meets the criteria to be classified as Benign for autosomal recessive Bernard-Soulier syndrome based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: BA1.
Labcorp Genetics (formerly Invitae), Labcorp RCV000906639 SCV001051290 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479042 SCV002802553 likely benign Bernard Soulier syndrome 2022-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000906639 SCV004698755 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing GP1BB: PP3, BS2
GeneDx RCV000906639 SCV005333177 uncertain significance not provided 2023-12-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28377559, 19548962, 24685245, 25370924, 28983057)
Mayo Clinic Laboratories, Mayo Clinic RCV000906639 SCV005410190 uncertain significance not provided 2024-05-29 criteria provided, single submitter clinical testing BS1, PM1_supporting

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