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

gnomAD frequency: 0.00097  dbSNP: rs140538535

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000944002	SCV001089962	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001286348	SCV001472902	uncertain significance	Stuve-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.
PreventionGenetics, part of Exact Sciences	RCV003960557	SCV004771073	likely benign	LIFR-related condition	2022-08-01	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).