ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.431G>T (p.Gly144Val)

dbSNP: rs1843285922
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069219 SCV001234372 uncertain significance Juvenile polyposis syndrome 2020-12-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BMPR1A-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 144 of the BMPR1A protein (p.Gly144Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine.

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