ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) (rs28937568)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809687 SCV000949853 pathogenic Charcot-Marie-Tooth disease axonal type 2F 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 151 of the HSPB1 protein (p.Thr151Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with distal hereditary motor neuropathy in a family (PMID: 15122254, 18325928), and has also been observed in additional families and individuals affected with distal hereditary motor neuropathy or Charcot-Marie-Tooth disease (PMID: 28144995, 29381233). ClinVar contains an entry for this variant (Variation ID: 7480). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174177 SCV001337303 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
OMIM RCV000007908 SCV000028113 pathogenic Distal hereditary motor neuronopathy type 2B 2004-06-01 no assertion criteria provided literature only

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