ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.16A>G (p.Ile6Val)

dbSNP: rs1842917141
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213055 SCV001384671 uncertain significance Juvenile polyposis syndrome 2020-03-05 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BMPR1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 6 of the BMPR1A protein (p.Ile6Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine.
Ambry Genetics RCV002402632 SCV002714133 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-13 criteria provided, single submitter clinical testing The p.I6V variant (also known as c.16A>G), located in coding exon 1 of the BMPR1A gene, results from an A to G substitution at nucleotide position 16. The isoleucine at codon 6 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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