ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.170C>G (p.Pro57Arg) (rs1057517610)

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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 RCV000494075 SCV000581497 likely pathogenic Hereditary cancer-predisposing syndrome 2018-01-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Color RCV000494075 SCV000911648 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-29 criteria provided, single submitter clinical testing
Counsyl RCV000409902 SCV000489435 uncertain significance Juvenile polyposis syndrome 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV000409902 SCV000756865 uncertain significance Juvenile polyposis syndrome 2018-10-09 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 57 of the BMPR1A protein (p.Pro57Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with juvenile polyposis (PMID: 15235019, 18823382, 14734220). ClinVar contains an entry for this variant (Variation ID: 371995). An experimental study has reported that this missense change affects the cellular localization of the BMPR1A protein, however, it did not reduce BMP signaling activity in vitro (PMID: 23433720). 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.

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