ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.503C>G (p.Ser168Ter)

dbSNP: rs779829941
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680032 SCV000807471 pathogenic Stuve-Wiedemann syndrome 2017-09-01 criteria provided, single submitter clinical testing This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with a missense variant in a 16-year-old male with congenital muscular dystrophy, scoliosis, spasticity, febrile seizures, dysmorphism, short stature, joint contractures, nasal speech, mild dysarthria

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