ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.389G>A (p.Arg130His) (rs377331666)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488093 SCV000575293 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623629 SCV000741581 uncertain significance Inborn genetic diseases 2016-06-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Invitae RCV000697227 SCV000825824 uncertain significance Ehlers-Danlos syndrome, classic type 2018-05-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 130 of the COL5A2 protein (p.Arg130His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs377331666, ExAC 0.006%). This variant has not been reported in the literature in individuals with COL5A2-related disease. ClinVar contains an entry for this variant (Variation ID: 425252). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV000697227 SCV001190438 uncertain significance Ehlers-Danlos syndrome, classic type 2019-10-02 criteria provided, single submitter clinical testing COL5A2 NM_000393.4 exon 5 p.Arg130His (c.389G>A): This variant has not been reported in the literature but is present in 0.01% (4/24956) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-189963466-C-T). This variant is present in ClinVar (Variation ID:425252). 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.

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