ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.25055C>T (p.Thr8352Ile)

gnomAD frequency: 0.00012  dbSNP: rs372762302
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067764 SCV001232843 uncertain significance Nemaline myopathy 2 2024-10-28 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 8387 of the NEB protein (p.Thr8387Ile). This variant is present in population databases (rs372762302, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 861273). 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.
Natera, Inc. RCV001067764 SCV001459159 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004738152 SCV005342350 uncertain significance NEB-related disorder 2024-07-22 no assertion criteria provided clinical testing The NEB c.25160C>T variant is predicted to result in the amino acid substitution p.Thr8387Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.050% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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