ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1189G>T (p.Glu397Ter)

dbSNP: rs187907868
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Stanford Medicine RCV001253763 SCV001427067 likely pathogenic Ehlers-Danlos syndrome, type 4 2019-08-06 no assertion criteria provided clinical testing The p.Glu397* variant in the COL3A1 gene has not been previously reported in association with disease. This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The p.Glu397* variant leads to a premature stop codon in exon 17 of 51 coding exons, and is therefore predicted to undergo nonsense-mediated decay resulting in a truncated or absent protein. Heterozygous loss of function is an established mechanism of disease for the COL3A1 gene. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, there is sufficient evidence to classify the p.Glu397* variant as likely pathogenic for vascular Ehlers-Danlos syndrome in an autosomal dominant manner based on the information above. [ACMG evidence codes used: PVS1; PM2]

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