ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21077G>A (p.Arg7026Gln)

gnomAD frequency: 0.00001  dbSNP: rs1487630736
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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 RCV001326321 SCV001517347 uncertain significance Nemaline myopathy 2 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 7026 of the NEB protein (p.Arg7026Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). 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 glutamine 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.
Ambry Genetics RCV004960778 SCV005451866 uncertain significance Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing The c.15974G>A (p.R5325Q) alteration is located in exon 113 (coding exon 111) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 15974, causing the arginine (R) at amino acid position 5325 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001326321 SCV002084074 uncertain significance Nemaline myopathy 2 2020-06-08 no assertion criteria provided clinical testing

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