ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23894C>A (p.Thr7965Asn)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246141 SCV001419481 uncertain significance Nemaline myopathy 2 2019-02-11 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 7965 of the NEB protein (p.Thr7965Asn). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and asparagine. This variant is present in population databases (rs760905651, ExAC 0.002%). This variant has not been reported in the literature in individuals 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 Clinical Services Laboratory,Illumina RCV001246141 SCV001451492 uncertain significance Nemaline myopathy 2 2019-03-22 criteria provided, single submitter clinical testing The NEB c.23894C>A (p.Thr7965Asn) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Control data are unavailable for this variant, which is reported at a frequency of 0.000421 in the Other population of the Genome Aggregation Database. Based on the limited evidence, the p.Thr7965Asn variant is classified as a variant of uncertain significance for nemaline myopathy.

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.