ClinVar Miner

Submissions for variant NM_001278074.1(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 Insufficient or inconclusive evidence
Invitae RCV000531240 SCV000631461 uncertain significance Ehlers-Danlos syndrome, classic type 2019-08-27 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 is present in population databases (rs146757272, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in an individual with keratoconus (PMID: 29924831). 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 disrupt the consensus splice site, 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.
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.

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