ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.908C>T (p.Thr303Ile)

dbSNP: rs1843622041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001188482 SCV001355553 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-04 criteria provided, single submitter clinical testing This missense variant replaces threonine with isoleucine at codon 303 of the BMPR1A protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BMPR1A-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001188482 SCV003860353 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-25 criteria provided, single submitter clinical testing The p.T303I variant (also known as c.908C>T), located in coding exon 8 of the BMPR1A gene, results from a C to T substitution at nucleotide position 908. The threonine at codon 303 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. 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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