ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.652C>T (p.Arg218Trp)

dbSNP: rs267606878
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380436 SCV001578514 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-05-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1052). This missense change has been observed in individual(s) with clinical features of focal segmental glomerulosclerosis (PMID: 20023659, 21866090, 25165188). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 218 of the INF2 protein (p.Arg218Trp). 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.
Fulgent Genetics, Fulgent Genetics RCV001380436 SCV002809148 likely pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-05-18 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003987303 SCV004804997 likely pathogenic Charcot-Marie-Tooth disease dominant intermediate E 2024-03-17 criteria provided, single submitter research
OMIM RCV000001107 SCV000021257 pathogenic Focal segmental glomerulosclerosis 5 2010-01-01 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000001107 SCV000925922 pathogenic Focal segmental glomerulosclerosis 5 2019-01-14 no assertion criteria provided clinical testing

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