ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln)

gnomAD frequency: 0.00126  dbSNP: rs200369827
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375801 SCV000385297 benign Focal segmental glomerulosclerosis 5 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001079222 SCV000652105 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000839526 SCV000981427 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26378787)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294266 SCV002587399 benign Focal segmental glomerulosclerosis 2020-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321984 SCV002607466 likely benign Inborn genetic diseases 2019-10-31 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.
CeGaT Center for Human Genetics Tuebingen RCV000839526 SCV002822163 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing INF2: BP4, BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000839526 SCV004564897 likely benign not provided 2023-11-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940210 SCV004748252 likely benign INF2-related disorder 2019-07-25 no assertion criteria provided 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).

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