ClinVar Miner

Submissions for variant NM_001203.3(BMPR1B):c.70A>G (p.Thr24Ala)

dbSNP: rs754365645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425791 SCV000528967 uncertain significance not provided 2020-01-03 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003766325 SCV004575305 uncertain significance Type A2 brachydactyly; Acromesomelic dysplasia 3 2023-09-24 criteria provided, single submitter clinical testing 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. 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 BMPR1B protein function. ClinVar contains an entry for this variant (Variation ID: 387086). This variant has not been reported in the literature in individuals affected with BMPR1B-related conditions. This variant is present in population databases (rs754365645, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 24 of the BMPR1B protein (p.Thr24Ala).

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