Submissions for variant NM_005359.6(SMAD4):c.905-9T>C

dbSNP: rs1064795175

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000484702	SCV000570721	uncertain significance	not provided	2016-06-20	criteria provided, single submitter	clinical testing	This variant is denoted SMAD4 c.905-9T>C or IVS7-9T>C and consists of a T>C nucleotide substitution at the -9 position of intron 7 of the SMAD4 gene. This variant is not predicted to affect splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. SMAD4 c.905-9T>C was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The thymine (T) nucleotide that is altered is conserved across species. Based on currently available information, it is unclear whether SMAD4 c.905-9T>C is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color Diagnostics, LLC DBA Color Health	RCV001187835	SCV001354722	likely benign	Hereditary cancer-predisposing syndrome	2022-01-31	criteria provided, single submitter	clinical testing
Invitae	RCV001427850	SCV001630538	likely benign	Juvenile polyposis syndrome	2023-10-03	criteria provided, single submitter	clinical testing