ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.653G>A (p.Arg218Gln) (rs267607183)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239762 SCV001412659 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2019-10-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 218 of the INF2 protein (p.Arg218Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with focal segmental glomerulosclerosis (FSGS) and was observed to segregate with FSGS in at least one family (PMID: 20023659, 25165188, Invitae). ClinVar contains an entry for this variant (Variation ID: 1051). This variant has been reported to affect INF2 protein function (PMID: 20023659, 26764407). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001106 SCV000021256 pathogenic Focal segmental glomerulosclerosis 5 2010-01-01 no assertion criteria provided literature only
Gharavi Laboratory,Columbia University RCV000681691 SCV000809139 pathogenic not provided 2018-09-16 no assertion criteria provided research
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000001106 SCV000863868 pathogenic Focal segmental glomerulosclerosis 5 2018-05-17 no assertion criteria provided clinical testing

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