ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.389G>C (p.Cys130Ser) (rs863224720)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200107 SCV000254797 uncertain significance Juvenile polyposis syndrome 2015-02-02 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 130 of the BMPR1A protein (p.Cys130Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant has not been published in the literature and is not present in population databases. A different variant affecting the same codon (p.Cys130Arg) has been reported in a patient affected with juvenile polyposis (PMID: 12136244), indicating that this residue may be critical for protein function. This variant affects a cysteine residue involved in disulfide bridge formation (PMID: 10881198). It is possible that this amino acid substitution results in protein conformational changes with functional consequences, but this prediction has not been confirmed by functional studies. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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