ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2578G>A (p.Glu860Lys)

gnomAD frequency: 0.00001  dbSNP: rs376094545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246088 SCV001419426 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451601 SCV002738948 uncertain significance Inborn genetic diseases 2020-10-21 criteria provided, single submitter clinical testing The p.E860K variant (also known as c.2578G>A), located in coding exon 16 of the INF2 gene, results from a G to A substitution at nucleotide position 2578. The glutamic acid at codon 860 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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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