ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2479C>A (p.Gln827Lys)

gnomAD frequency: 0.00014  dbSNP: rs4983379
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650003 SCV000771840 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001719157 SCV001947548 benign not provided 2021-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442345 SCV002734637 likely benign Inborn genetic diseases 2021-01-15 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.
Genetic Services Laboratory, University of Chicago RCV003151117 SCV003839608 benign not specified 2022-08-26 no assertion criteria provided clinical testing

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