ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1000G>C (p.Val334Leu)

gnomAD frequency: 0.00003  dbSNP: rs772926628
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793162 SCV000932503 uncertain significance Aortic valve disease 2 2022-07-18 criteria provided, single submitter clinical testing This variant is present in population databases (rs772926628, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 334 of the SMAD6 protein (p.Val334Leu). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 640191).

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