ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.230T>C (p.Leu77Pro)

dbSNP: rs1595163851
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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 RCV001201657 SCV001372739 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-07-01 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 77 of the INF2 protein (p.Leu77Pro). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Leu77 amino acid residue in INF2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24174593, 25676889). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt INF2 protein function. ClinVar contains an entry for this variant (Variation ID: 637707). This missense change has been observed in individuals with INF2-related conditions (PMID: 22961558; Invitae). This variant is not present in population databases (gnomAD no frequency).
Inherited Neuropathy Consortium RCV000789989 SCV000929378 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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