ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.785T>C (p.Val262Ala) (rs770830310)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466256 SCV000552848 uncertain significance Juvenile polyposis syndrome 2016-12-07 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 262 of the BMPR1A protein (p.Val262Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. The frequency data for this variant (rs770830310) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a BMPR1A-related disease. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000573612 SCV000668317 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
PreventionGenetics,PreventionGenetics RCV000679550 SCV000806610 uncertain significance not provided 2018-01-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679550 SCV000887613 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing
Color RCV000573612 SCV000911563 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-14 criteria provided, single submitter clinical testing

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