Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008588 | SCV001168361 | likely pathogenic | not provided | 2019-02-11 | criteria provided, single submitter | clinical testing | The c.912_915delTTCT variant in the LIFR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.912_915delTTCT variant causes a frameshift starting with codon Isoleucine 304, changes this amino acid to a Methionine residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Ile304MetfsX10. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.912_915delTTCT variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.912_915delTTCT as a pathogenic variant. |
Invitae | RCV001008588 | SCV002232942 | pathogenic | not provided | 2022-09-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 817458). This variant has not been reported in the literature in individuals affected with LIFR-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ile304Metfs*10) in the LIFR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LIFR are known to be pathogenic (PMID: 14740318). |
Natera, |
RCV001276357 | SCV001462557 | likely pathogenic | Stuve-Wiedemann syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |