ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.139C>T (p.Pro47Ser)

gnomAD frequency: 0.00546  dbSNP: rs368960350
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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 RCV000542955 SCV000650580 benign Aortic valve disease 2 2024-01-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701636 SCV005205333 likely benign not specified 2024-06-04 criteria provided, single submitter clinical testing Variant summary: SMAD6 c.139C>T (p.Pro47Ser) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00081 in 33256 control chromosomes. The observed variant frequency is approximately 26-fold of the estimated maximal expected allele frequency for a pathogenic variant in SMAD6 causing Aortic Valve Disease phenotype (3.1e-05). To our knowledge, no occurrence of c.139C>T in individuals affected with Aortic Valve Disease and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 471749). Based on the evidence outlined above, the variant was classified as likely benign.

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