ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1006T>C (p.Tyr336His)

gnomAD frequency: 0.00001  dbSNP: rs1894552779
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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 RCV001329433 SCV001520874 uncertain significance Aortic valve disease 2 2020-09-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002418986 SCV002725236 uncertain significance Inborn genetic diseases 2022-05-24 criteria provided, single submitter clinical testing The p.Y336H variant (also known as c.1006T>C), located in coding exon 4 of the SMAD6 gene, results from a T to C substitution at nucleotide position 1006. The tyrosine at codon 336 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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