ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.2013dup (p.Met672fs)

dbSNP: rs1430793861
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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 RCV001851876 SCV002204591 pathogenic not provided 2023-08-29 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: 14461). This variant is also known as 2011_2012insT. This premature translational stop signal has been observed in individual(s) with Stuve-Wiedemann syndrome (PMID: 14740318). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Met672Tyrfs*12) 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).
OMIM RCV000015547 SCV000035812 pathogenic Stuve-Wiedemann syndrome 2004-02-01 no assertion criteria provided literature only

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