ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.511G>T (p.Glu171Ter)

dbSNP: rs1893037722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329435 SCV001520876 likely pathogenic Aortic valve disease 2 2020-10-14 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001329435 SCV004407548 uncertain significance Aortic valve disease 2 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu171*) in the SMAD6 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SMAD6 cause disease. This variant is not present in population databases (gnomAD no frequency). 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: 1028402). 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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