ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11234G>T (p.Arg3745Leu)

gnomAD frequency: 0.00003  dbSNP: rs765379397
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556689 SCV000640500 uncertain significance Nemaline myopathy 2 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 3745 of the NEB protein (p.Arg3745Leu). This variant is present in population databases (rs765379397, gnomAD 0.1%). 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: 465435). 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.
Revvity Omics, Revvity RCV003129893 SCV003810214 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing
GeneDx RCV003129893 SCV004170669 uncertain significance not provided 2023-10-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005027642 SCV005650443 uncertain significance Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2024-03-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000556689 SCV002077088 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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