ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1189G>A (p.Val397Met)

gnomAD frequency: 0.00001  dbSNP: rs771775245
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414390 SCV000492272 uncertain significance not specified 2016-12-13 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the INF2 gene. The V397M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V397M variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V397M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001226432 SCV001398745 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338975 SCV002641714 uncertain significance Inborn genetic diseases 2020-02-03 criteria provided, single submitter clinical testing The p.V397M variant (also known as c.1189G>A), located in coding exon 7 of the INF2 gene, results from a G to A substitution at nucleotide position 1189. The valine at codon 397 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.
Fulgent Genetics, Fulgent Genetics RCV001226432 SCV002799649 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-03-19 criteria provided, single submitter clinical testing

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