ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.268C>T (p.Pro90Ser)

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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 RCV002603174 SCV003497633 uncertain significance Aortic valve disease 2 2022-12-16 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 90 of the SMAD6 protein (p.Pro90Ser).
Ambry Genetics RCV003294538 SCV004007158 uncertain significance Inborn genetic diseases 2023-05-27 criteria provided, single submitter clinical testing The p.P90S variant (also known as c.268C>T), located in coding exon 1 of the SMAD6 gene, results from a C to T substitution at nucleotide position 268. The proline at codon 90 is replaced by serine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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