ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.140G>A (p.Gly47Glu) (rs368595543)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166542 SCV000217343 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000231777 SCV000288386 uncertain significance Juvenile polyposis syndrome 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 47 of the BMPR1A protein (p.Gly47Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs368595543, ExAC 0.009%). This variant has not been reported in the literature in individuals with BMPR1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 186884). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV000166542 SCV000682864 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-12 criteria provided, single submitter clinical testing
Counsyl RCV000231777 SCV000785766 uncertain significance Juvenile polyposis syndrome 2017-11-27 criteria provided, single submitter clinical testing

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