ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.873C>T (p.Gly291=) (rs138569287)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621702 SCV000738515 likely benign Cardiovascular phenotype 2016-03-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000519510 SCV000618306 uncertain significance not provided 2017-03-14 criteria provided, single submitter clinical testing The c.873 C>T variant of uncertain significance in the COL3A1 gene has not been published as pathogenic or been reported as benign to our knowledge. However, it has been observed in one other unrelated individual referred for connective tissue disorder genetic testing at GeneDx. Although c.873 C>T results in a synonymous amino acid substitution (G291G), in silico splice prediction programs predict this variant creates a new cryptic splice donor site upstream of the natural intron 12 splice donor site, which may lead to abnormal gene splicing. However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. This substitution occurs at a nucleotide that is not conserved across species, and thymine (T) is wild-type nucleotide at this position in multiple species. Furthermore, the c.873 C>T variant is observed in 6/16,450 alleles from individuals of South Asian ancestry, 4/11,462 alleles from individuals of Latino ancestry, and 4/65,846 alleles from individuals of European (Non-Finnish) ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016).

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