Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000412332 | SCV000487334 | likely pathogenic | Familial adenomatous polyposis 2 | 2016-02-16 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000412332 | SCV000639337 | pathogenic | Familial adenomatous polyposis 2 | 2023-09-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly176Thrfs*16) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. ClinVar contains an entry for this variant (Variation ID: 371677). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV000569402 | SCV000662635 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-05-25 | criteria provided, single submitter | clinical testing | The c.526_535del10 pathogenic mutation, located in coding exon 7 of the MUTYH gene, results from a deletion of 10 nucleotides at nucleotide positions 526 to 535, causing a translational frameshift with a predicted alternate stop codon. This alteration was observed in the germline of an individual with a pancreatic neuroendocrine tumor (Scarpa A et al. Nature, 2017 Mar;543:65-71). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985862 | SCV001134480 | likely pathogenic | not provided | 2018-12-04 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality. |
| Color Diagnostics, |
RCV000569402 | SCV001339705 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | This variant deletes 10 nucleotides in exon 7 of the MUTYH gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MUTYH function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
| Baylor Genetics | RCV000412332 | SCV004198974 | likely pathogenic | Familial adenomatous polyposis 2 | 2024-02-21 | criteria provided, single submitter | clinical testing |