ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1471C>T (p.Arg491Ter) (rs1057518075)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414289 SCV000491462 pathogenic not provided 2018-06-08 criteria provided, single submitter clinical testing The R491X pathogenic variant in the COL3A1 gene has been reported previously in a family with abdominal aortic aneurysms without skin features; specifically, this variant was identified in an adult male with a small dissection of the arteria lienalis, his paternal aunt with history of an infrarenal aortic aneurysm, and also in an unaffected adult female relative (van de Luijtgaarden et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R491X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, based on the ACMG recommendations, R491X is interpreted as a known pathogenic sequence change.
GenomeConnect, ClinGen RCV000509138 SCV000607016 not provided Ehlers-Danlos syndrome, type 4 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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