ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23803A>G (p.Arg7935Gly)

gnomAD frequency: 0.00001  dbSNP: rs1318564274
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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 RCV001204528 SCV001375737 uncertain significance Nemaline myopathy 2 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 7970 of the NEB protein (p.Arg7970Gly). This variant is not present in population databases (gnomAD no frequency). 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: 935852). 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 RCV001751377 SCV001996578 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Natera, Inc. RCV001204528 SCV002083997 uncertain significance Nemaline myopathy 2 2020-06-14 no assertion criteria provided clinical testing

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