ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.2607T>A (p.Pro869=) (rs376643618)

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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 RCV000245858 SCV000318108 uncertain significance Cardiovascular phenotype 2012-12-06 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000418506 SCV000511700 uncertain significance not provided 2016-11-10 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000608441 SCV000732471 likely benign not specified 2018-02-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001204079 SCV001375268 uncertain significance Ehlers-Danlos syndrome, type 4 2019-09-20 criteria provided, single submitter clinical testing This sequence change affects codon 869 of the COL3A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL3A1 protein. This variant is present in population databases (rs376643618, ExAC 0.006%). This variant has not been reported in the literature in individuals with COL3A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 263465). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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