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

dbSNP: rs540793556

Total submissions: 4

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	Familial adenomatous polyposis 2	2016-04-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776104	SCV000910935	likely benign	Hereditary cancer-predisposing syndrome	2016-05-03	criteria provided, single submitter	clinical testing
Invitae	RCV000412343	SCV002402160	likely benign	Familial adenomatous polyposis 2	2024-01-30	criteria provided, single submitter	clinical testing