ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3157G>A (p.Val1053Met)

gnomAD frequency: 0.00008  dbSNP: rs760721935
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819052 SCV000959694 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325612 SCV002610628 uncertain significance Inborn genetic diseases 2020-02-24 criteria provided, single submitter clinical testing The p.V1053M variant (also known as c.3157G>A), located in coding exon 20 of the INF2 gene, results from a G to A substitution at nucleotide position 3157. The valine at codon 1053 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available 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.
CeGaT Center for Human Genetics Tuebingen RCV003396438 SCV004135294 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing INF2: BP4

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