ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) (rs775531807)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523414 SCV000616806 uncertain significance not provided 2018-08-06 criteria provided, single submitter clinical testing The c.5698_5703delTACAAC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.5698_5703delTACAAC variant is observed in 17/66,612 (0.03%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.5698_5703delTACAAC variant causes an in-frame deletion of Tyrosine 1900 and Asparagine 1901, denoted p.Tyr1900_Asn1901del. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Invitae RCV000690877 SCV000818606 uncertain significance Nemaline myopathy 2 2019-12-30 criteria provided, single submitter clinical testing This variant, c.5698_5703del, results in the deletion of 2 amino acids of the NEB protein (p.Tyr1900_Asn1901del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs775531807, ExAC 0.03%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 449072). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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.
Natera, Inc. RCV000690877 SCV001453492 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.