ClinVar Miner

Submissions for variant NM_145064.3(STAC3):c.214GAG[6] (p.Glu76dup)

dbSNP: rs781007752
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001894020 SCV002121660 uncertain significance Bailey-Bloch congenital myopathy 2022-07-21 criteria provided, single submitter clinical testing This variant, c.226_228dup, results in the insertion of 1 amino acid(s) of the STAC3 protein (p.Glu76dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781010949, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with STAC3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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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