ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.3711C>T (p.Gly1237=) (rs763583510)

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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 RCV000618654 SCV000738665 likely benign Cardiovascular phenotype 2019-04-08 criteria provided, single submitter clinical testing RNA Studies;Other data supporting benign classification
Invitae RCV001220100 SCV001392073 uncertain significance Ehlers-Danlos syndrome, classic type 2019-07-26 criteria provided, single submitter clinical testing This sequence change affects codon 1237 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 not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with clinical features of Ehlers-Danlos syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 519648). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.

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