ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1312T>G (p.Phe438Val)

gnomAD frequency: 0.00001  dbSNP: rs959840049
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001219428 SCV001391366 uncertain significance Nemaline myopathy 2 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 438 of the NEB protein (p.Phe438Val). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and valine. 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 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.
Revvity Omics, Revvity RCV003130194 SCV003811550 uncertain significance not provided 2019-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004960569 SCV005451820 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.1312T>G (p.F438V) alteration is located in exon 15 (coding exon 13) of the NEB gene. This alteration results from a T to G substitution at nucleotide position 1312, causing the phenylalanine (F) at amino acid position 438 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001219428 SCV002077830 uncertain significance Nemaline myopathy 2 2020-09-29 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.