ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) (rs148354076)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000346451 SCV000457574 uncertain significance Stüve-Wiedemann syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756308 SCV000884077 likely benign not provided 2018-05-03 criteria provided, single submitter clinical testing The p.Gln978Gln variant (rs148354076) does not alter the amino acid sequence of the LIFR protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with skeletal dysplasia in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.1 percent in the European Non-Finnish population (identified on 181 out of 126,646 chromosomes) and has been reported to the ClinVar database (Variation ID: 353608). Based on these observations, the p.Gln978Gln variant is likely to be benign.
Invitae RCV000756308 SCV001025421 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000346451 SCV001462551 likely benign Stüve-Wiedemann syndrome 2020-09-16 no assertion criteria provided clinical testing

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