Submissions for variant NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys) (rs1583966042)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000817252	SCV000957802	uncertain significance	Charcot-Marie-Tooth disease axonal type 2F	2018-11-15	criteria provided, single submitter	clinical testing	This sequence change replaces tyrosine with cysteine at codon 133 of the HSPB1 protein (p.Tyr133Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly 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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