Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000679277 | SCV000805977 | uncertain significance | not provided | 2017-06-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001855627 | SCV002316394 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 7 of the MLH1 gene. It does not directly change the encoded amino acid sequence of the MLH1 protein. RNA analysis indicates that this variant induces altered splicing and likely results in the gain of 5 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. This variant is present in population databases (rs754180618, gnomAD 0.004%). This variant has been observed in individual(s) with colorectal cancer (PMID: 24802709). ClinVar contains an entry for this variant (Variation ID: 560784). Studies have shown that this variant results in the activation of a cryptic splice site in intron 7 (PMID: 24802709; Invitae). 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. |
Ambry Genetics | RCV003163076 | SCV003889619 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-18 | criteria provided, single submitter | clinical testing | The c.589-17T>A intronic alteration consists of a T to A substitution 17 nucleotides before coding exon 8 in the MLH1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Baylor Genetics | RCV003465546 | SCV004193057 | uncertain significance | Colorectal cancer, hereditary nonpolyposis, type 2 | 2022-03-13 | criteria provided, single submitter | clinical testing |