ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.359G>A (p.Arg120Gln) (rs1060503401)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467161 SCV000552874 uncertain significance Juvenile polyposis syndrome 2017-01-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 120 of the BMPR1A protein (p.Arg120Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BMPR1A-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
GeneDx RCV000482494 SCV000566192 uncertain significance not provided 2015-04-06 criteria provided, single submitter clinical testing This variant is denoted BMPR1A c.359G>A at the cDNA level, p.Arg120Gln (R120Q) at the protein level, and results in the change of an Arginine to a Glutamine (CGG>CAG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BMPR1A Arg120Gln 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 Arg120Gln occurs at a position that is conserved across species and is located within the Cysteine-rich domain (Howe 2004). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BMPR1A Arg120Gln is pathogenic or benign. We consider it to be a variant of uncertain significance.

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