ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674830 SCV000800231 pathogenic Nemaline myopathy 2 2018-05-29 criteria provided, single submitter clinical testing
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.

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