ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.667+6T>C

gnomAD frequency: 0.00001  dbSNP: rs1060500745
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458313 SCV000543762 uncertain significance Juvenile polyposis syndrome 2022-06-24 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the SMAD4 gene. It does not directly change the encoded amino acid sequence of the SMAD4 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SMAD4-related conditions. ClinVar contains an entry for this variant (Variation ID: 405505). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Diagnostics, LLC DBA Color Health RCV000580296 SCV000686548 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463858 SCV004204859 uncertain significance Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2022-12-07 criteria provided, single submitter clinical testing

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