ClinVar Miner

Submissions for variant NM_001136193.2(FASTKD2):c.756G>A (p.Gln252=)

gnomAD frequency: 0.00019  dbSNP: rs377619612
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000907822 SCV000515844 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing
Invitae RCV000907822 SCV001052550 benign not provided 2023-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488898 SCV002802717 likely benign Combined oxidative phosphorylation deficiency 44 2022-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922725 SCV004744005 likely benign FASTKD2-related condition 2019-04-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000907822 SCV001550068 likely benign not provided no assertion criteria provided clinical testing The FASTKD2 p.Gln252Gln variant was not identified in the literature nor was it identified in LOVD 3.0. The variant was identified in dbSNP (ID: rs377619612) and ClinVar (classified as likely benign by GeneDx and benign by Invitae). The variant was identified in control databases in 75 of 278382 chromosomes at a frequency of 0.0002694 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: African in 70 of 24200 chromosomes (freq: 0.002893), Other in 1 of 7128 chromosomes (freq: 0.00014) and Latino in 4 of 35406 chromosomes (freq: 0.000113), but was not observed in the Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), or South Asian populations. The p.Gln252Gln variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. The variant occurs outside of the splicing consensus sequence and 3 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing. However, this information is not predictive enough to assume pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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.