ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1067C>T (p.Ala356Val)

gnomAD frequency: 0.00001  dbSNP: rs375622503
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821029 SCV000961768 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000821029 SCV002815432 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2021-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537488 SCV003741934 uncertain significance Inborn genetic diseases 2022-10-12 criteria provided, single submitter clinical testing The c.1067C>T (p.A356V) alteration is located in exon 8 (coding exon 7) of the INF2 gene. This alteration results from a C to T substitution at nucleotide position 1067, causing the alanine (A) at amino acid position 356 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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