ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.310T>C (p.Cys104Arg)

dbSNP: rs387907034
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000023849 SCV001985040 pathogenic Charcot-Marie-Tooth disease dominant intermediate E 2021-10-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003488347 SCV004235795 uncertain significance not provided 2023-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764633 SCV004570809 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-07-25 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 104 of the INF2 protein (p.Cys104Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 22187985). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 30864). 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. This variant disrupts the p.Cys104 amino acid residue in INF2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22187985, 29653220; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000023849 SCV000045140 pathogenic Charcot-Marie-Tooth disease dominant intermediate E 2011-12-22 no assertion criteria provided literature only

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