ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.94G>C (p.Gly32Arg)

gnomAD frequency: 0.00002  dbSNP: rs755462552
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461457 SCV000552893 uncertain significance Juvenile polyposis syndrome 2024-02-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 32 of the BMPR1A protein (p.Gly32Arg). This variant is present in population databases (rs755462552, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with BMPR1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 411643). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt BMPR1A function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000522769 SCV000617152 uncertain significance not provided 2020-02-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV000572168 SCV000668288 benign Hereditary cancer-predisposing syndrome 2022-04-13 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.
Color Diagnostics, LLC DBA Color Health RCV000572168 SCV000682923 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-08 criteria provided, single submitter clinical testing This missense variant replaces glycine with arginine at codon 32 of the BMPR1A protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BMPR1A-related disorders in the literature. This variant has been identified in 3/251330 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV000522769 SCV001334624 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489081 SCV002779621 uncertain significance Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndrome 2022-04-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000461457 SCV004840686 uncertain significance Juvenile polyposis syndrome 2024-01-11 criteria provided, single submitter clinical testing This missense variant replaces glycine with arginine at codon 32 of the BMPR1A protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BMPR1A-related disorders in the literature. This variant has been identified in 3/251330 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Baylor Genetics RCV004568076 SCV005058151 uncertain significance Polyposis syndrome, hereditary mixed, 2 2024-03-27 criteria provided, single submitter clinical testing

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