ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3059C>T (p.Ala1020Val)

gnomAD frequency: 0.00006  dbSNP: rs368372551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649959 SCV000771796 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442343 SCV002754073 uncertain significance Inborn genetic diseases 2020-05-15 criteria provided, single submitter clinical testing The p.A1020V variant (also known as c.3059C>T), located in coding exon 20 of the INF2 gene, results from a C to T substitution at nucleotide position 3059. The alanine at codon 1020 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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