Submissions for variant NM_022489.4(INF2):c.148T>G (p.Tyr50Asp) (rs1555373261)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000534855	SCV000652077	uncertain significance	Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E	2019-04-08	criteria provided, single submitter	clinical testing	This sequence change replaces tyrosine with aspartic acid at codon 50 of the INF2 protein (p.Tyr50Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis (PMID: 28780565, Invitae). ClinVar contains an entry for this variant (Variation ID: 472837). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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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