ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn)

dbSNP: rs764338863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066305 SCV001231312 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003259078 SCV003972792 uncertain significance Inborn genetic diseases 2023-04-07 criteria provided, single submitter clinical testing The c.3598G>A (p.D1200N) 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 3598, causing the aspartic acid (D) at amino acid position 1200 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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