ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1209G>T (p.Glu403Asp)

dbSNP: rs1564417691
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub RCV000714910 SCV000845665 uncertain significance Brugada syndrome 2017-10-16 criteria provided, single submitter clinical testing To the best of our knowledge this variant has not been reported as disease-causing or as a benign polymorphism, and has not been detected in approximately 120,000 individuals in control populations (gnomAD database). Algorithms developed to predict the effect of missense changes on protein structure and function all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. The p.Glu403 amino acid residue is not evolutionary conserved, and p.Asp403 is found in some species; suggesting this change may not be damaging.

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