ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1058A>G (p.Gln353Arg)

gnomAD frequency: 0.00001  dbSNP: rs1405441693
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527621 SCV000632680 uncertain significance Juvenile polyposis syndrome 2024-07-22 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 353 of the BMPR1A protein (p.Gln353Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with colon cancer (PMID: 27978560). ClinVar contains an entry for this variant (Variation ID: 460472). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BMPR1A protein function with a negative predictive value of 80%. 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.
Color Diagnostics, LLC DBA Color Health RCV000580162 SCV000682835 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580162 SCV001178195 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-17 criteria provided, single submitter clinical testing The p.Q353R variant (also known as c.1058A>G), located in coding exon 8 of the BMPR1A gene, results from an A to G substitution at nucleotide position 1058. The glutamine at codon 353 is replaced by arginine, an amino acid with highly similar properties. This alteration has been previously identified in one individual from a North American cohort of individuals with early onset colon cancer. (Pearlman R et al. JAMA Oncol, 2017 Apr;3:464-471).This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800740 SCV002046553 uncertain significance not provided 2021-01-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000527621 SCV004835969 uncertain significance Juvenile polyposis syndrome 2023-11-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568766 SCV005058180 uncertain significance Polyposis syndrome, hereditary mixed, 2 2024-01-09 criteria provided, single submitter clinical testing

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