ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.36G>T (p.Glu12Asp)

gnomAD frequency: 0.00004  dbSNP: rs1386455261
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
Eurofins Ntd Llc (ga) RCV000731433 SCV000859251 uncertain significance not provided 2018-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536463 SCV003478247 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-04-12 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MKS1 protein function. ClinVar contains an entry for this variant (Variation ID: 595787). This variant has not been reported in the literature in individuals affected with MKS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 12 of the MKS1 protein (p.Glu12Asp).
Fulgent Genetics, Fulgent Genetics RCV005027911 SCV005649667 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2024-05-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004527764 SCV004110750 uncertain significance MKS1-related disorder 2024-05-23 no assertion criteria provided clinical testing The MKS1 c.36G>T variant is predicted to result in the amino acid substitution p.Glu12Asp. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.