ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln)

gnomAD frequency: 0.00011  dbSNP: rs374424323
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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 RCV001344104 SCV001538140 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-07-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001344104 SCV002782762 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547001 SCV003701488 uncertain significance Inborn genetic diseases 2022-07-20 criteria provided, single submitter clinical testing The c.3209G>A (p.R1070Q) alteration is located in exon 21 (coding exon 20) of the INF2 gene. This alteration results from a G to A substitution at nucleotide position 3209, causing the arginine (R) at amino acid position 1070 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003132437 SCV003813383 uncertain significance not provided 2021-11-18 criteria provided, single submitter clinical testing

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