ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1411C>T (p.Arg471Cys) (rs771452619)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000581065 SCV000682865 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-22 criteria provided, single submitter clinical testing
Invitae RCV000688695 SCV000816317 uncertain significance Juvenile polyposis syndrome 2018-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 471 of the BMPR1A protein (p.Arg471Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs771452619, ExAC 0.01%). This variant has not been reported in the literature in individuals with BMPR1A-related disease. ClinVar contains an entry for this variant (Variation ID: 489686. 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: "Probably Damaging"; Align-GVGD: "Class C25"). 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757031 SCV000885064 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing The BMPR1A c.1411C>T; p.Arg471Cys variant is not reported in the medical literature or in gene-specific databases. The variant is reported in the ClinVar database (Variation ID: 489686). This variant is found in the general population in 6/246254 alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at this position is moderately conserved across species and computational algorithms (PolyPhen-2, SIFT) predict this variant is deleterious. Considering available information, there is insufficient evidence to classify this variant with certainty. Pathogenic BMPR1A variants are causative for juvenile polyposis syndrome (MIM: 601299).

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