ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2767G>A (p.Ala923Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038939 SCV001202441 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2019-04-09 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 923 of the INF2 protein (p.Ala923Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs774099930, ExAC 0.003%). This variant has not been reported in the literature in individuals with INF2-related conditions. 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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