ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.580G>A (p.Val194Met)

gnomAD frequency: 0.00003  dbSNP: rs368298329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039827 SCV001203375 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354994 SCV002647409 uncertain significance Inborn genetic diseases 2019-12-19 criteria provided, single submitter clinical testing The p.V194M variant (also known as c.580G>A), located in coding exon 3 of the INF2 gene, results from a G to A substitution at nucleotide position 580. The valine at codon 194 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.

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