Submissions for variant NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn) (rs755233365)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000641077	SCV000762695	uncertain significance	Charcot-Marie-Tooth disease type 2F	2018-04-30	criteria provided, single submitter	clinical testing	This sequence change replaces lysine with asparagine at codon 123 of the HSPB1 protein (p.Lys123Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs755233365, ExAC 0.002%). This variant has not been reported in the literature in individuals with HSPB1-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, 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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