ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.194C>G (p.Pro65Arg)

gnomAD frequency: 0.00013  dbSNP: rs990598927
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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 RCV000460366 SCV000543785 uncertain significance Aortic valve disease 2 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 65 of the SMAD6 protein (p.Pro65Arg). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. ClinVar contains an entry for this variant (Variation ID: 405518). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330692 SCV004039345 uncertain significance not specified 2023-08-24 criteria provided, single submitter clinical testing

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