ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.171_174del (p.Asn58fs)

dbSNP: rs1561179853
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513065 SCV003525786 pathogenic not provided 2024-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn58Ilefs*52) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Stüve-Wiedemann syndrome (PMID: 16969869, 18546280). It has also been observed to segregate with disease in related individuals. This variant is also known as 167-170delTAAC. ClinVar contains an entry for this variant (Variation ID: 14462). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015548 SCV000035813 pathogenic Stuve-Wiedemann syndrome 2008-07-01 no assertion criteria provided literature only

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