Submissions for variant NM_001540.5(HSPB1):c.372C>G (p.His124Gln) (rs145243219)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000558321	SCV000640212	uncertain significance	Charcot-Marie-Tooth disease type 2F	2018-12-21	criteria provided, single submitter	clinical testing	This sequence change replaces histidine with glutamine at codon 124 of the HSPB1 protein (p.His124Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs145243219, ExAC 0.008%). 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: "Possibly Damaging"; 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.
Athena Diagnostics Inc	RCV000711974	SCV000842385	uncertain significance	not provided	2018-01-25	criteria provided, single submitter	clinical testing

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