ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1405A>G (p.Met469Val)

gnomAD frequency: 0.00004  dbSNP: rs1461056808
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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 RCV001037619 SCV001201043 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031039 SCV004887954 uncertain significance Inborn genetic diseases 2023-09-27 criteria provided, single submitter clinical testing The c.1405A>G (p.M469V) alteration is located in exon 8 (coding exon 7) of the INF2 gene. This alteration results from a A to G substitution at nucleotide position 1405, causing the methionine (M) at amino acid position 469 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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