ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1240G>T (p.Asp414Tyr)

dbSNP: rs1554891329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001318457 SCV001509156 uncertain significance Juvenile polyposis syndrome 2024-03-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 414 of the BMPR1A protein (p.Asp414Tyr). This variant is not present in population databases (gnomAD no frequency). 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: 1019072). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 RCV002384407 SCV002668466 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-17 criteria provided, single submitter clinical testing The p.D414Y variant (also known as c.1240G>T), located in coding exon 9 of the BMPR1A gene, results from a G to T substitution at nucleotide position 1240. The aspartic acid at codon 414 is replaced by tyrosine, an amino acid with highly dissimilar 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.

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