ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe) (rs1231796327)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558745 SCV000640206 uncertain significance Charcot-Marie-Tooth disease type 2F 2018-01-11 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 77 of the HSPB1 protein (p.Leu77Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with an 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, 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.

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