ClinVar Miner

Submissions for variant NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) (rs138495222)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725983 SCV000340999 uncertain significance not provided 2016-04-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000988532 SCV000371854 likely benign Multiple exostoses type 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000725983 SCV000617673 uncertain significance not provided 2017-11-03 criteria provided, single submitter clinical testing The T587M variant has been published previously in association with hereditary multiple exostoses (Jennes et al., 2009; Stavropoulos et al., 2016). However, the variant is observed in 45/30776 (0.1462%) alleles from individuals of South Asian background in large population cohorts, including one homozygote (Lek et al., 2016). T587M is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000988532 SCV001001436 likely benign Multiple exostoses type 2 2020-11-20 criteria provided, single submitter clinical testing
Mendelics RCV000988532 SCV001138280 uncertain significance Multiple exostoses type 2 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000120877 SCV000085045 not provided not specified 2013-09-19 no assertion provided reference population

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.