ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val)

gnomAD frequency: 0.00001  dbSNP: rs747843876
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001281056 SCV001468480 uncertain significance Ehlers-Danlos syndrome, classic type 2020-08-03 criteria provided, single submitter clinical testing COL5A2 NM_000393.4 exon 42 p.Ala929Val (c.2786C>T): This variant has not been reported in the literature but is present in 0.006% (2/30022) of South Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-189916191-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001880203 SCV002210250 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2023-11-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 929 of the COL5A2 protein (p.Ala929Val). This variant is present in population databases (rs747843876, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 988851). 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 COL5A2 protein function with a negative predictive value of 80%. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224538 SCV003919841 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2021-03-30 criteria provided, single submitter clinical testing COL5A2 NM_000393.4 exon 42 p.Ala929Val (c.2786C>T): This variant has not been reported in the literature but is present in 0.006% (2/30022) of South Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-189916191-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Birmingham Platelet Group; University of Birmingham RCV001270557 SCV001450856 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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.