ClinVar Miner

Submissions for variant NM_001271208.1(NEB):c.7523_7526del (rs878854368)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483217 SCV000568737 pathogenic not provided 2017-01-23 criteria provided, single submitter clinical testing The c.7523_7526delTCAA pathogenic variant in the NEB gene has been reported previously using alternate nomenclature (g.87012_87015delAATC) in combination with another NEB variant in an individual with a mild form of nemaline myopathy (Lehtokari et al., 2006). The c.7523_7526delTCAA variant causes a frameshift starting with codon Isoleucine 2508, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Ile2508ThrfsX14. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.7523_7526delTCAA variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.7523_7526delTCAA as a pathogenic variant.
Counsyl RCV000674830 SCV000800231 pathogenic Nemaline myopathy 2 2018-05-29 criteria provided, single submitter clinical testing
Invitae RCV000674830 SCV001407173 pathogenic Nemaline myopathy 2 2019-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile2508Thrfs*14) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with nemaline myopathy (PMID: 16917880). This variant is also known as g.87012_87015del in the literature. ClinVar contains an entry for this variant (Variation ID: 242434). Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic.

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