ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.609dup (p.Ala204fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049978 SCV001214062 uncertain significance Charcot-Marie-Tooth disease axonal type 2F 2019-01-22 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the HSPB1 gene (p.Ala204Argfs*6). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last three amino acids of the HSPB1 protein and extend the protein by an additional three amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HSPB1-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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