ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.-21A>C (rs1570591840)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015414 SCV001176242 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-20 criteria provided, single submitter clinical testing The p.L8R variant (also known as c.23T>G), located in coding exon 1 of the MUTYH gene, results from a T to G substitution at nucleotide position 23. The leucine at codon 8 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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