ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.232_250del (p.Gln78fs)

dbSNP: rs965061234
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001873730 SCV002162725 uncertain significance Aortic valve disease 2 2022-05-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1174564). 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. This premature translational stop signal has been observed in individual(s) with craniosynostosis (PMID: 27606499). This sequence change creates a premature translational stop signal (p.Gln78Glyfs*41) 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).
GeneDx RCV003442889 SCV004168098 likely pathogenic not provided 2023-04-14 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34953066, 27606499, 34208845)
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001799786 SCV001739409 pathogenic Radioulnar synostosis 2020-06-20 no assertion criteria provided research

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