ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2602C>T (p.Arg868Cys)

gnomAD frequency: 0.00001  dbSNP: rs757230162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001306503 SCV001495878 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034099 SCV004887963 uncertain significance Inborn genetic diseases 2024-02-06 criteria provided, single submitter clinical testing The c.2602C>T (p.R868C) alteration is located in exon 17 (coding exon 16) of the INF2 gene. This alteration results from a C to T substitution at nucleotide position 2602, causing the arginine (R) at amino acid position 868 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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