Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000129216 | SCV000183967 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-11-13 | criteria provided, single submitter | clinical testing | The p.E506* pathogenic mutation (also known as c.1516G>T), located in coding exon 13 of the MRE11A gene, results from a G to T substitution at nucleotide position 1516. This changes the amino acid from a glutamic acid to a stop codon within coding exon 13. 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. |
University of Washington Department of Laboratory Medicine, |
RCV000129216 | SCV000266186 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-11-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000513255 | SCV000608613 | likely pathogenic | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000797374 | SCV000936928 | pathogenic | Ataxia-telangiectasia-like disorder | 2024-01-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu506*) in the MRE11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). This variant is present in population databases (rs587781384, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with breast or ovarian cancer, fallopian tube cancer, and lung cancer (PMID: 24763289, 26786923, 26845104, 28125075). ClinVar contains an entry for this variant (Variation ID: 140941). For these reasons, this variant has been classified as Pathogenic. |
Mendelics | RCV000988624 | SCV001138408 | pathogenic | Ataxia-telangiectasia-like disorder 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000988624 | SCV004193770 | likely pathogenic | Ataxia-telangiectasia-like disorder 1 | 2023-10-25 | criteria provided, single submitter | clinical testing |