ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.553G>A (p.Val185Ile) (rs140538535)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000944002 SCV001089962 likely benign not provided 2020-11-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286348 SCV001472902 uncertain significance Stüve-Wiedemann syndrome 2019-09-25 criteria provided, single submitter clinical testing The LIFR c.553G>A; p.Val185Ile variant (rs140538535), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found in the African population with an overall allele frequency of 0.35% (85/24630 alleles) in the Genome Aggregation Database. The valine at codon 185 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Val185Ile variant is uncertain at this time.

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