ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.787T>G (p.Ser263Ala) (rs1364540701)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795748 SCV000935220 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2019-11-28 criteria provided, single submitter clinical testing This sequence change replaces serine with alanine at codon 263 of the INF2 protein (p.Ser263Ala). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with congenital nephrotic syndrome and was inherited from an unaffected parent (PMID: 26248470). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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