ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3224G>A (p.Arg1075His)

gnomAD frequency: 0.00001  dbSNP: rs370169829
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526867 SCV000652108 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448771 SCV002612263 uncertain significance Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing The p.R1075H variant (also known as c.3224G>A), located in coding exon 20 of the INF2 gene, results from a G to A substitution at nucleotide position 3224. The arginine at codon 1075 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly 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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