ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del) (rs769605183)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539547 SCV000650594 uncertain significance Aortic valve disease 2 2018-12-27 criteria provided, single submitter clinical testing This variant, c.79_84delAGCGGC, results in the deletion of 2 amino acid(s) of the SMAD6 protein (p.Ser27_Gly28del), but otherwise preserves the integrity of the reading frame. While this variant is present in population databases (rs769605183), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with bicuspid aortic valve-associated thoracic aortic aneurysm (PMID: 28659821). This variant is also known as c.73_79del, p.Gly26_Ser27del in the literature. ClinVar contains an entry for this variant (Variation ID: 471762). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.

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