ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.912_915del (p.Ile304fs) (rs1561159768)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.
Natera, Inc. RCV001276357 SCV001462557 likely pathogenic Stüve-Wiedemann syndrome 2020-09-16 no assertion criteria provided clinical testing

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