Submissions for variant NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys) (rs1183371665)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001020	SCV001158128	uncertain significance	not specified	2019-02-18	criteria provided, single submitter	clinical testing	The HSPB8 c.140C>G; p.Ser47Cys variant (rs1183371665), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found on 2 out of 277,102 chromosomes in the Genome Aggregation Database indicating it is not a common polymorphism. The serine at codon 47 is weakly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Ser47Cys variant is uncertain at this time.
Invitae	RCV001223553	SCV001395709	uncertain significance	Charcot-Marie-Tooth disease, type 2L	2019-05-10	criteria provided, single submitter	clinical testing	This sequence change replaces serine with cysteine at codon 47 of the HSPB8 protein (p.Ser47Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine 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 HSPB8-related conditions. 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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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