ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) (rs145163157)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000334528 SCV000335417 uncertain significance not provided 2015-10-12 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764608 SCV000895707 uncertain significance Stüve-Wiedemann syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000334528 SCV001112958 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000764608 SCV001159844 uncertain significance Stüve-Wiedemann syndrome 2019-11-08 criteria provided, single submitter clinical testing The LIFR c.364A>G; p.Thr122Ala variant (rs145163157), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 283380). This variant is found in the African population with an allele frequency of 0.35% (86/24,768 alleles) in the Genome Aggregation Database. The threonine at codon 122 is weakly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is benign. However, due to limited information, the clinical significance of this variant is uncertain at this time.

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