ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2765G>A (p.Arg922His)

gnomAD frequency: 0.00004  dbSNP: rs749197190
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000886 SCV001157968 uncertain significance not specified 2018-11-15 criteria provided, single submitter clinical testing The INF2 c.2765G>A; p.Arg922His variant (rs749197190), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the East Asian population with an allele frequency of 0.15% (29/19,504 alleles) in the Genome Aggregation Database. The arginine at codon 922 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Arg922His variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860500 SCV002311432 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434390 SCV002750362 likely benign Inborn genetic diseases 2022-05-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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