ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2204G>A (p.Arg735Gln)

gnomAD frequency: 0.00004  dbSNP: rs375390523
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045820 SCV001209694 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429612 SCV002729553 uncertain significance Inborn genetic diseases 2020-12-22 criteria provided, single submitter clinical testing The p.R735Q variant (also known as c.2204G>A), located in coding exon 12 of the INF2 gene, results from a G to A substitution at nucleotide position 2204. The arginine at codon 735 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamine is the reference amino acid in other 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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