ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1082G>A (p.Arg361Gln) (rs730881436)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159840 SCV000209876 uncertain significance not provided 2015-09-16 criteria provided, single submitter clinical testing This variant is denoted BMPR1A c.1082G>A at the cDNA level, p.Arg361Gln (R361Q) at the protein level, and results in the change of an Arginine to a Glutamine (CGA>CAA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BMPR1A Arg361Gln was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Arginine and Glutamine differ in some properties, this is considered a semi-conservative amino acid substitution. BMPR1A Arg361Gln occurs at a position that is conserved across species and is located in the protein kinase domain (Howe 2004). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether BMPR1A Arg361Gln is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV000530820 SCV000632683 uncertain significance Juvenile polyposis syndrome 2017-07-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 361 of the BMPR1A protein (p.Arg361Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BMPR1A-related disease. ClinVar contains an entry for this variant (Variation ID: 182070). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV000772718 SCV000906003 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-04 criteria provided, single submitter clinical testing

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