ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.997A>C (p.Lys333Gln)

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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 RCV003596979 SCV004313695 uncertain significance Juvenile polyposis syndrome 2023-08-08 criteria provided, single submitter clinical testing 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 affected with BMPR1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 333 of the BMPR1A protein (p.Lys333Gln). 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 RCV004950452 SCV005539163 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-31 criteria provided, single submitter clinical testing The p.K333Q variant (also known as c.997A>C), located in coding exon 8 of the BMPR1A gene, results from an A to C substitution at nucleotide position 997. The lysine at codon 333 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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