ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24998A>T (p.Gln8333Leu)

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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 RCV003628875 SCV004507778 uncertain significance Nemaline myopathy 2 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 8368 of the NEB protein (p.Gln8368Leu). This variant is present in population databases (rs759958496, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with NEB-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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