ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.218G>T (p.Gly73Val)

dbSNP: rs918089359
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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 RCV000542048 SCV000652086 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2020-08-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of INF2-related conditions (PMID: 31937884, Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 472842). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 73 of the INF2 protein (p.Gly73Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine.
GeneDx RCV004721436 SCV005328245 likely pathogenic not provided 2024-03-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31937884, 37491439, 22965130, Fujii2023[casereport], 23014460, 31096240)

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