ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.2T>G (p.Met1Arg)

dbSNP: rs1409145798
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001322811 SCV001513700 uncertain significance Aortic valve disease 2 2017-07-02 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SMAD6 cause disease. This variant has not been reported in the literature in individuals with SMAD6-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change affects the initiator methionine of the SMAD6 mRNA. While it is expected to result in an absent or disrupted protein product an alternate in-frame methionine downstream of the original initiator codon located at codon 93 could potentially rescue translation initiation.

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