ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066305 SCV001231312 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2019-08-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1200 of the INF2 protein (p.Asp1200Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs764338863, ExAC 0.007%). 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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