ClinVar Miner

Submissions for variant NM_001388492.1(HTT):c.3779C>T (p.Thr1260Met)

gnomAD frequency: 0.02416  dbSNP: rs34315806
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001662450 SCV001873082 benign not provided 2019-04-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26740508)
H3Africa Consortium RCV001777163 SCV002014639 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.083, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Labcorp Genetics (formerly Invitae), Labcorp RCV001662450 SCV002407454 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001662450 SCV005299505 benign not provided criteria provided, single submitter not provided
OMIM RCV000477735 SCV000564191 pathogenic Lopes-Maciel-Rodan syndrome 2017-04-15 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000477735 SCV001142335 benign Lopes-Maciel-Rodan syndrome 2020-01-06 no assertion criteria provided curation NM_002111.6:c.3785C>T (p.Thr1262Met) was reported as T1260M in the literature. This variant has an allele frequency of 0.079 in African subpopulation in the gnomAD database, including 62 homozygous. Lopes et al. reported a patient with Rett syndrome-like phenotypes. WES revealed two compound heterozygous variants in the HTT gene: a maternal c.C2108T, p.(P703L) and a paternal c.C3779T, p.(T1260M). However, the author indictated the latter varaint T1260M as a polymorphism (PMID: 26740508). This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2, BS2.

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.