ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.341G>A (p.Gly114Asp)

dbSNP: rs1595164091
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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 RCV001380433 SCV001578511 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-02-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 114 of the INF2 protein (p.Gly114Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of INF2-related conditionss (PMID: 24174593, 25943269, 31515790; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 637704). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789986 SCV000929375 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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