ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.34C>T (p.Arg12Ter)

gnomAD frequency: 0.00001  dbSNP: rs1241989233
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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 RCV001901496 SCV002168496 uncertain significance Aortic valve disease 2 2023-05-22 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1404142). This premature translational stop signal has been observed in individual(s) with ATR-16 syndrome (PMID: 32005695). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg12*) 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.
GeneDx RCV003329420 SCV004036300 likely pathogenic not provided 2023-03-22 criteria provided, single submitter clinical testing Reported in individuals from a single family who also harbored a 16p13.3 deletion and had features of alpha-thalassemia/impaired intellectual development syndrome (Babbs et al., 2020); Nonsense 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: 32005695)

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