ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.640C>T (p.Arg214Cys) (rs912928648)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387301 SCV001587895 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2020-08-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 214 of the INF2 protein (p.Arg214Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with focal segmental glomerulosclerosis (PMID: 21258034, 25165188, 28780565). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 635443). 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. For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000786896 SCV000925795 pathogenic Focal segmental glomerulosclerosis 5 2018-11-09 no assertion criteria provided clinical testing
Inherited Neuropathy Consortium RCV000790333 SCV000929743 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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