ClinVar Miner

Submissions for variant NC_000002.11:g.(?_152541945)_(152544192_?)del

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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 RCV004582553 SCV005063169 likely pathogenic Nemaline myopathy 2 2022-06-09 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts a region of the NEB protein in which other variant(s) (p.Lys845Glu) have been observed in individuals with NEB-related conditions (PMID: 25214167). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 847953). This variant has not been reported in the literature in individuals affected with NEB-related conditions. This variant results in the deletion of exon 27 and part of exon 26 (c.2472_2638-456delinsTTTGTTATAATA) of the NEB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138).

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