ClinVar Miner

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

dbSNP: rs1563653037
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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 2023-02-23 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 846632). This variant has not been reported in the literature in individuals affected with HSPB1-related conditions. This variant is not present in population databases (gnomAD no frequency). 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 2 amino acid(s) of the HSPB1 protein and extend the protein by 3 additional amino acid residues. 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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