ClinVar Miner

Submissions for variant NM_002709.3(PPP1CB):c.201A>G (p.Gln67=)

gnomAD frequency: 0.57257  dbSNP: rs1128416
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV005253651 SCV005903439 benign RASopathy 2024-12-03 reviewed by expert panel curation The c.201A>G (p.Gln67=) variant in PPP1CB is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, the computational predictor REVEL does not predict a damaging effect on PPP1CB function (BP4, BP7). The filtering allele frequency in gnomAD v2 is 60.64% in the European (non-Finnish) population, which is higher than the ClinGen RASopathy VCEP threshold (>0.0005) for BA1, and therefore meets this criterion (BA1). In summary, this variant meets the criteria to be classified as benign for autosomal dominant RASopathy based on the ACMG/AMP criteria applied, as specified by the ClinGen RASopathy VCEP: BA1, BP4, BP7. (RASopathy VCEP specifications version 1.3; 12/3/2024)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825640 SCV000967010 benign not specified 2018-03-12 criteria provided, single submitter clinical testing p.Asp58Asp in exon 4 of p.Gln67Gln: This variant is not expected to have clinica l significance because it has been identified in 60.975% (77029/126328) of Europ ean chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadi nstitute.org; dbSNP rs1128416). ACMG/AMP Criteria applied: BA1.
GeneDx RCV001683665 SCV001902907 benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789369 SCV002031811 benign Noonan syndrome-like disorder with loose anagen hair 2 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001683665 SCV002332485 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415953 SCV002718478 benign Cardiovascular phenotype 2018-12-04 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000825640 SCV003929299 benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683665 SCV005239882 benign not provided criteria provided, single submitter not provided

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