Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003470877 | SCV004193879 | likely pathogenic | Ataxia-telangiectasia-like disorder 1 | 2022-12-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003771833 | SCV004640836 | pathogenic | Ataxia-telangiectasia-like disorder | 2023-02-14 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1260482). This premature translational stop signal has been observed in individual(s) with MRE11-related conditions (PMID: 32658311). This sequence change creates a premature translational stop signal (p.Val367Glyfs*5) 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). |
Medical Genetics Laboratory, |
RCV001669300 | SCV001885895 | likely pathogenic | Breast carcinoma | no assertion criteria provided | clinical testing | Invasive breast carcinoma, Estrogen receptor:+ Progesterone receptor:+ Her-2:- |