ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp)

gnomAD frequency: 0.00001  dbSNP: rs960735572
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796092 SCV000935589 uncertain significance Nemaline myopathy 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 8163 of the NEB protein (p.Asn8163Asp). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NEB-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001766638 SCV001991357 uncertain significance not provided 2019-06-13 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001766638 SCV003811615 uncertain significance not provided 2020-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000796092 SCV002083967 uncertain significance Nemaline myopathy 2 2021-01-26 no assertion criteria provided clinical testing

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