ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.703C>G (p.Gln235Glu)

dbSNP: rs1554890745
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635419 SCV000756832 uncertain significance Juvenile polyposis syndrome 2025-01-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 235 of the BMPR1A protein (p.Gln235Glu). This variant is not present in population databases (gnomAD no frequency). 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: 529901). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
Ambry Genetics RCV001025958 SCV001188247 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-31 criteria provided, single submitter clinical testing The p.Q235E variant (also known as c.703C>G), located in coding exon 7 of the BMPR1A gene, results from a C to G substitution at nucleotide position 703. The glutamine at codon 235 is replaced by glutamic acid, an amino acid with highly similar properties. 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.
Baylor Genetics RCV004568394 SCV005058192 uncertain significance Polyposis syndrome, hereditary mixed, 2 2023-12-09 criteria provided, single submitter clinical testing

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