Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000566392 | SCV000670156 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-26 | criteria provided, single submitter | clinical testing | The c.577-5A>T intronic variant results from an A to T substitution 5 nucleotides upstream from coding exon 8 in the MUTYH gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV000610055 | SCV000724577 | likely benign | not specified | 2017-11-08 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000640415 | SCV000762006 | likely benign | Familial adenomatous polyposis 2 | 2023-08-07 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000640415 | SCV000837771 | uncertain significance | Familial adenomatous polyposis 2 | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000566392 | SCV001357566 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-11-05 | criteria provided, single submitter | clinical testing | This variant causes an A>T nucleotide substitution at the -5 position of intron 7 of the MUTYH gene. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in 1 individual diagnosed with at least 10 polyps (PMID: 24470512). This variant has not been identified 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. |