ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.667C>T (p.Gln223Ter)

gnomAD frequency: 0.00001  dbSNP: rs1064793003
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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 RCV001203697 SCV001374873 uncertain significance Aortic valve disease 2 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln223*) 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 premature translational stop signal has been observed in individual(s) with non-syndromic midline craniosynostosis (PMID: 27606499). ClinVar contains an entry for this variant (Variation ID: 417818). 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.
OMIM RCV000477817 SCV000564288 risk factor CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO 2017-04-19 no assertion criteria provided literature only

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