ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11221G>A (p.Gly3741Ser)

gnomAD frequency: 0.00016  dbSNP: rs375657086
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000383035 SCV000343836 uncertain significance not provided 2016-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000694969 SCV000823441 uncertain significance Nemaline myopathy 2 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3741 of the NEB protein (p.Gly3741Ser). This variant is present in population databases (rs375657086, gnomAD 0.03%). 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: 289466). 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 RCV004021279 SCV004978077 uncertain significance Inborn genetic diseases 2023-11-09 criteria provided, single submitter clinical testing The c.10492G>A (p.G3498S) alteration is located in exon 73 (coding exon 71) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 10492, causing the glycine (G) at amino acid position 3498 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000694969 SCV001459403 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.