ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9866G>A (p.Gly3289Asp)

gnomAD frequency: 0.00019  dbSNP: rs371490023
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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 RCV001057236 SCV001221719 uncertain significance Nemaline myopathy 2 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 3289 of the NEB protein (p.Gly3289Asp). This variant is present in population databases (rs371490023, gnomAD 0.009%). 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: 852592). 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.
Ambry Genetics RCV002553367 SCV003691775 uncertain significance Inborn genetic diseases 2021-08-04 criteria provided, single submitter clinical testing The c.9137G>A (p.G3046D) alteration is located in exon 66 (coding exon 64) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 9137, causing the glycine (G) at amino acid position 3046 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004721730 SCV005327025 uncertain significance not provided 2024-03-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 33726816)
Natera, Inc. RCV001057236 SCV001454953 uncertain significance Nemaline myopathy 2 2020-03-17 no assertion criteria provided clinical testing

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