ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20021_20023del (p.Ile6674del)

dbSNP: rs1577105410
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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 RCV000819726 SCV000960403 uncertain significance Nemaline myopathy 2 2022-08-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NEB-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.20021_20023del, results in the deletion of 1 amino acid(s) of the NEB protein (p.Ile6674del), but otherwise preserves the integrity of the reading frame. ClinVar contains an entry for this variant (Variation ID: 662143). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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