ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.10349G>A (p.Arg3450His)

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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 RCV003001866 SCV003293180 uncertain significance Nemaline myopathy 2 2022-06-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 3450 of the NEB protein (p.Arg3450His). This variant is present in population databases (rs367627899, gnomAD 0.01%). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV003134581 SCV003809629 uncertain significance not provided 2019-07-12 criteria provided, single submitter clinical testing

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