ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2921G>T (p.Arg974Leu)

dbSNP: rs368642083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001864862 SCV002124633 uncertain significance Nemaline myopathy 2 2022-06-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NEB-related conditions. 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. 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"). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 974 of the NEB protein (p.Arg974Leu).
Revvity Omics, Revvity RCV003132565 SCV003810251 uncertain significance not provided 2020-03-25 criteria provided, single submitter clinical testing

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