ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.904+14T>C (rs200973136)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776159 SCV000911204 likely benign Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing
Counsyl RCV000662799 SCV000785617 likely benign Juvenile polyposis syndrome 2017-10-13 criteria provided, single submitter clinical testing
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.

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