ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1015G>A (p.Ala339Thr)

dbSNP: rs758432395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204591 SCV001375804 uncertain significance Juvenile polyposis syndrome 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 339 of the BMPR1A protein (p.Ala339Thr). This variant is present in population databases (rs758432395, gnomAD 0.003%). 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: 935902). 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. 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.
Ambry Genetics RCV002339513 SCV002639411 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-11 criteria provided, single submitter clinical testing The p.A339T variant (also known as c.1015G>A), located in coding exon 8 of the BMPR1A gene, results from a G to A substitution at nucleotide position 1015. The alanine at codon 339 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003473747 SCV004212655 uncertain significance Polyposis syndrome, hereditary mixed, 2 2023-05-11 criteria provided, single submitter clinical testing

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