ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.2444C>G (p.Thr815Arg)

gnomAD frequency: 0.00001  dbSNP: rs1744257909
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV001034610 SCV001190330 likely pathogenic Stuve-Wiedemann syndrome 2020-03-20 no assertion criteria provided clinical testing ACMG criteria: PM2, PP3, PP4, PS2 as moderate as the Variant was de novo. The patient carried also a known frameshift mutation. Since this variant is de novo it cannot be assured to be in trans however given the matching phenotype of the patient it is likely to be the underlying cause.

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