ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1048T>C (p.Tyr350His) (rs749571434)

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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 RCV000575787 SCV000673006 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000575787 SCV000688225 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759474 SCV000888814 uncertain significance not provided 2018-06-04 criteria provided, single submitter clinical testing
Invitae RCV000820356 SCV000961065 uncertain significance Juvenile polyposis syndrome 2018-10-23 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 350 of the BMPR1A protein (p.Tyr350His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs749571434, 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: 485368). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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.

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