ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.59G>A (p.Arg20His) (rs759014147)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204803 SCV000260778 uncertain significance Juvenile polyposis syndrome 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 20 of the BMPR1A protein (p.Arg20His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs759014147, ExAC 0.03%). This variant has not been reported in the literature in individuals with BMPR1A-related disease. ClinVar contains an entry for this variant (Variation ID: 220321). 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 histidine 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. 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.
Ambry Genetics RCV000213165 SCV000274869 likely benign Hereditary cancer-predisposing syndrome 2017-07-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification
Counsyl RCV000204803 SCV000489109 uncertain significance Juvenile polyposis syndrome 2016-08-25 criteria provided, single submitter clinical testing
Color RCV000213165 SCV000904352 likely benign Hereditary cancer-predisposing syndrome 2017-01-25 criteria provided, single submitter clinical testing

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