ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs377331666
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics 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
Invitae RCV002231119 SCV000825824 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-04 criteria provided, single submitter clinical testing
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.
GeneDx RCV000488093 SCV001831892 uncertain significance not provided 2021-02-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 425252; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 23587214, 11006503, 22696272, 8168810)
Ambry Genetics RCV002356798 SCV002620932 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-11-06 criteria provided, single submitter clinical testing The p.R130H variant (also known as c.389G>A), located in coding exon 5 of the COL5A2 gene, results from a G to A substitution at nucleotide position 389. The arginine at codon 130 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224298 SCV003919845 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2021-03-30 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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