ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1957G>A (p.Glu653Lys)

gnomAD frequency: 0.00004  dbSNP: rs368576387
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649964 SCV000771801 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-01-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261158 SCV002541241 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294363 SCV002587446 uncertain significance Kidney disorder 2021-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422390 SCV002722076 likely benign Inborn genetic diseases 2019-10-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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