ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2970G>C (p.Gly990=)

gnomAD frequency: 0.00013  dbSNP: rs933589600
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Total submissions: 6
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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 RCV000767945 SCV000898631 uncertain significance Ehlers-Danlos syndrome, classic type 2018-03-27 criteria provided, single submitter clinical testing COL5A2 NM_000393.4 exon 43 p.Gly990= (c.2970G>C): This variant has not been reported in the literature but is present in 18/24258 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV002061036 SCV001652263 likely benign Ehlers-Danlos syndrome, classic type, 1 2022-09-23 criteria provided, single submitter clinical testing
GeneDx RCV001585691 SCV001812793 likely benign not provided 2020-08-12 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002061036 SCV002496074 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2021-02-16 criteria provided, single submitter clinical testing COL5A2 NM_000393.4 exon 43 p.Gly990= (c.2970G>C): This variant has not been reported in the literature but is present in 18/24258 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003227851 SCV003924262 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2021-03-30 criteria provided, single submitter clinical testing COL5A2 NM_000393.4 exon 43 p.Gly990= (c.2970G>C): This variant has not been reported in the literature but is present in 18/24258 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003227851 SCV004562507 likely benign Ehlers-Danlos syndrome, classic type, 2 2023-08-31 criteria provided, single submitter clinical testing

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