ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8356A>G (p.Arg2786Gly)

gnomAD frequency: 0.00008  dbSNP: rs201747395
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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 RCV000695686 SCV000824200 uncertain significance Nemaline myopathy 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 2786 of the NEB protein (p.Arg2786Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs201747395, ExAC 0.02%). 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.
Illumina Laboratory Services, Illumina RCV000695686 SCV001293265 uncertain significance Nemaline myopathy 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV002532320 SCV003528090 uncertain significance Inborn genetic diseases 2022-05-09 criteria provided, single submitter clinical testing The c.8356A>G (p.R2786G) alteration is located in exon 60 (coding exon 58) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 8356, causing the arginine (R) at amino acid position 2786 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000695686 SCV002079624 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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