ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.-54G>T (rs540793556)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160750 SCV000211400 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing This variant is denoted MUTYH c.36+20C>A or IVS1+20C>A and consists of a C>A nucleotide substitution at the +20 position of intron 1 of the MUTYH gene. Multiple in silico models predict this variant to create a cryptic donor site in intron 1, and lead to abnormal 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. MUTYH c.36+20C>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The cytosine (C) nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether MUTYH c.36+20C>A is pathogenic or benign. We consider it to be a variant of uncertain significance.
Counsyl RCV000412343 SCV000487351 uncertain significance MYH-associated polyposis 2016-04-20 criteria provided, single submitter clinical testing
Color Health, Inc RCV000776104 SCV000910935 likely benign Hereditary cancer-predisposing syndrome 2016-05-03 criteria provided, single submitter clinical testing

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