ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter)

dbSNP: rs1393544920
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001170885 SCV000738529 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2023-03-01 criteria provided, single submitter clinical testing The p.R238* pathogenic mutation (also known as c.712C>T), located in coding exon 9 of the COL3A1 gene, results from a C to T substitution at nucleotide position 712. This changes the amino acid from an arginine to a stop codon within coding exon 9. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170885 SCV001333508 likely pathogenic Familial thoracic aortic aneurysm and aortic dissection 2019-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860392 SCV002238270 pathogenic Ehlers-Danlos syndrome, type 4 2023-01-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 519603). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg238*) in the COL3A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796252 SCV005418868 pathogenic Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PP4

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