ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser)

dbSNP: rs777225392
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549905 SCV000640217 uncertain significance Charcot-Marie-Tooth disease axonal type 2F 2017-06-09 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on HSPB1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with a HSPB1-related disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces phenylalanine with serine at codon 185 of the HSPB1 protein (p.Phe185Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine.

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