ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.4G>C (p.Ala2Pro) (rs781609463)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759160 SCV000888310 uncertain significance not provided 2017-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017945 SCV001179114 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-29 criteria provided, single submitter clinical testing The c.-2C>G variant is located in the 5' untranslated region (5’ UTR) of the MUTYH gene. This variant results from a C to G substitution 2 bases upstream from the first translated codon. This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Health, Inc RCV001017945 SCV001734323 uncertain significance Hereditary cancer-predisposing syndrome 2020-07-14 criteria provided, single submitter clinical testing This variant is located in the 5’ untranslated region of the MUTYH gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/248736 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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