Submissions for variant NM_005359.6(SMAD4):c.904+14T>C

gnomAD frequency: 0.00017  dbSNP: rs200973136

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000235880	SCV000293176	uncertain significance	not specified	2017-05-08	criteria provided, single submitter	clinical testing	This variant is denoted SMAD4 c.904+14T>C or IVS7+14T>C and consists of a T>C nucleotide substitution at the +14 position of intron 7 of the SMAD4 gene. Multiple in silico models are uninformative regarding the effect of this variant on the nearby natural donor site and possible impact on gene splicing. 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.904+14T>C was not observed at a significant allele frequency in 1000 Genomes. The thymine (T) nucleotide that is altered is conserved through mammals. Based on currently available information, it is unclear whether SMAD4 c.904+14T>C is pathogenic or benign. We consider it to be a variant of uncertain significance.
Counsyl	RCV000662799	SCV000785617	likely benign	Generalized juvenile polyposis/juvenile polyposis coli	2017-10-13	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776159	SCV000911204	likely benign	Hereditary cancer-predisposing syndrome	2016-03-17	criteria provided, single submitter	clinical testing
Invitae	RCV002057252	SCV002461156	likely benign	Juvenile polyposis syndrome	2024-01-07	criteria provided, single submitter	clinical testing