ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys)

gnomAD frequency: 0.00007  dbSNP: rs369987125
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700350 SCV000829102 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-06-13 criteria provided, single submitter clinical testing
GeneDx RCV001548362 SCV001768258 likely benign not provided 2021-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319561 SCV002608833 uncertain significance Inborn genetic diseases 2022-07-08 criteria provided, single submitter clinical testing The p.R1028C variant (also known as c.3082C>T), located in coding exon 20 of the INF2 gene, results from a C to T substitution at nucleotide position 3082. The arginine at codon 1028 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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