ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1450T>C (p.Ser484Pro)

dbSNP: rs1554891611
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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 RCV001341681 SCV001535564 uncertain significance Juvenile polyposis syndrome 2020-07-29 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 BMPR1A protein function. This variant has not been reported in the literature in individuals with BMPR1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 484 of the BMPR1A protein (p.Ser484Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline.
Wendy Chung Laboratory, Columbia University Medical Center RCV001823940 SCV002073639 not provided Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension no assertion provided literature only

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