ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.607_609GCC[1] (p.Ala204del) (rs1276065076)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819533 SCV000960198 uncertain significance Charcot-Marie-Tooth disease axonal type 2F 2018-08-09 criteria provided, single submitter clinical testing This variant, c.610_612delGCC, results in the deletion of 1 amino acid of the HSPB1 protein (p.Ala204del), but otherwise preserves the integrity of the reading frame. 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 disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid 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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