Submissions for variant NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) (rs147633804)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Fulgent Genetics,Fulgent Genetics	RCV000765821	SCV000897214	uncertain significance	Charcot-Marie-Tooth disease, type 4C; Mononeuropathy of the median nerve, mild	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000457307	SCV000546361	uncertain significance	Charcot-Marie-Tooth disease type 4	2016-07-25	criteria provided, single submitter	clinical testing	This sequence change replaces leucine with methionine at codon 173 of the SH3TC2 protein (p.Leu173Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine. This variant is present in population databases (rs147633804, ExAC 0.01%) but has not been reported in the literature in individuals with a SH3TC2-related disease. 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, this variant is a rare missense change with uncertain impact on protein function. It is not expected to cause disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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