ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.142G>A (p.Val48Ile)

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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 RCV002392033 SCV002698718 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-20 criteria provided, single submitter clinical testing The p.V48I variant (also known as c.142G>A), located in coding exon 2 of the BMPR1A gene, results from a G to A substitution at nucleotide position 142. The valine at codon 48 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003095149 SCV003503688 uncertain significance Juvenile polyposis syndrome 2024-03-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 48 of the BMPR1A protein (p.Val48Ile). This variant is present in population databases (rs775188308, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with BMPR1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1772471). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BMPR1A protein function with a negative predictive value of 95%. 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.
Revvity Omics, Revvity RCV003146557 SCV003831490 uncertain significance not provided 2020-03-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475367 SCV004212603 uncertain significance Polyposis syndrome, hereditary mixed, 2 2023-09-06 criteria provided, single submitter clinical testing

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