ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1513C>T (p.Pro505Ser)

gnomAD frequency: 0.00001  dbSNP: rs776430998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187142 SCV001353834 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-11-01 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 505 of the COL3A1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with COL3A1-related disorders in the literature. This variant has been identified in 2/159602 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV004538418 SCV004114761 uncertain significance COL3A1-related disorder 2023-04-18 criteria provided, single submitter clinical testing The COL3A1 c.1513C>T variant is predicted to result in the amino acid substitution p.Pro505Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0032% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-189860421-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
All of Us Research Program, National Institutes of Health RCV004008674 SCV004832468 uncertain significance Ehlers-Danlos syndrome, type 4 2023-11-20 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 505 of the COL3A1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with COL3A1-related disorders in the literature. This variant has been identified in 2/159602 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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