Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223926 | SCV001396096 | uncertain significance | Familial adenomatous polyposis 2 | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 3 of the MUTYH gene. It does not directly change the encoded amino acid sequence of the MUTYH protein. 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: 951920). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Mendelics | RCV002249812 | SCV002518327 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002339597 | SCV002618592 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2023-02-28 | criteria provided, single submitter | clinical testing | The c.348+10C>T intronic variant results from a C to T substitution 10 nucleotides after coding exon 3 in the MUTYH gene. This variant has been reported in the homozygous state in a proband with attenuated familial adenomatous polyposis (Fokkema IF et al. Hum Mutat, 2011 May;32:557-63). This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic. |
Institute for Clinical Genetics, |
RCV003321810 | SCV004025978 | pathogenic | not provided | 2020-06-05 | criteria provided, single submitter | clinical testing | PM2_SUP, BP4 |