ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter)

dbSNP: rs794728057
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181116 SCV000233392 pathogenic not provided 2024-03-25 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Color Diagnostics, LLC DBA Color Health RCV001184789 SCV001350858 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2022-08-17 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 50 of the COL3A1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of COL3A1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002478604 SCV002801076 pathogenic Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2021-07-01 criteria provided, single submitter clinical testing

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