ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.2962GAA[2] (p.Glu990del)

dbSNP: rs761535056
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001350660 SCV001545070 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This variant, c.2968_2970del, results in the deletion of 1 amino acid(s) of the LIFR protein (p.Glu990del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs761535056, gnomAD 0.04%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with LIFR-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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