ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2804C>T (p.Ala935Val)

gnomAD frequency: 0.00003  dbSNP: rs781494318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706310 SCV000835352 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440545 SCV002749787 uncertain significance Inborn genetic diseases 2020-02-25 criteria provided, single submitter clinical testing The p.A935V variant (also known as c.2804C>T), located in coding exon 18 of the INF2 gene, results from a C to T substitution at nucleotide position 2804. The alanine at codon 935 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.
Fulgent Genetics, Fulgent Genetics RCV000706310 SCV002786698 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-03-16 criteria provided, single submitter clinical testing

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