ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1183G>A (p.Glu395Lys)

gnomAD frequency: 0.00004  dbSNP: rs374769850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235504 SCV000293038 uncertain significance not provided 2020-08-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001243475 SCV001416638 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2020-05-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with INF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 245865). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glutamic acid with lysine at codon 395 of the INF2 protein (p.Glu395Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine.
Fulgent Genetics, Fulgent Genetics RCV001243475 SCV002779361 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-05-17 criteria provided, single submitter clinical testing

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