ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.2088C>T (p.Pro696=) (rs146757272)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252097 SCV000320551 uncertain significance Cardiovascular phenotype 2015-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000606777 SCV000732196 likely benign not specified 2017-05-16 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 RCV000531240 SCV000631461 uncertain significance Ehlers-Danlos syndrome, classic type 2017-03-09 criteria provided, single submitter clinical testing This sequence change affects codon 696 of the COL5A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL5A1 protein. This variant also falls at the last nucleotide of exon 21 of the COL5A1 coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs146757272, ExAC 0.02%) but has not been reported in the literature in individuals with a COL5A1-related disease. ClinVar contains an entry for this variant (Variation ID: 264547). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare silent change with uncertain impact on splicing. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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