ClinVar Miner

Submissions for variant NM_002476.2(MYL4):c.48TCCAGC[4] (p.16AP[9])

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215236 SCV001386969 uncertain significance Atrial fibrillation, familial, 18 2019-06-12 criteria provided, single submitter clinical testing This variant, c.60_65dupTCCAGC, results in the insertion of 2 amino acids to the MYL4 protein (p.Ala30_Pro31dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs774642552, ExAC 0.02%). This variant has not been reported in the literature in individuals with MYL4-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids 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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