ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24408_24410dup (p.Leu8137dup) (rs1344099907)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664983 SCV000789032 uncertain significance Nemaline myopathy 2 2016-12-27 criteria provided, single submitter clinical testing
Invitae RCV000664983 SCV000961355 uncertain significance Nemaline myopathy 2 2018-10-16 criteria provided, single submitter clinical testing This variant, c.24408_24410dup, results in the insertion of 1 amino acid to the NEB protein (p.Leu8137dup), 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 NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 550279). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected 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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