ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5486T>G (p.Phe1829Cys)

dbSNP: rs863223483
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195957 SCV000249927 likely pathogenic not provided 2014-11-20 criteria provided, single submitter clinical testing p.Phe1829Cys (TTT>TGT): c.5486 T>G in exon 66 of the COL5A1 gene (NM_000093.3) The F1829C has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The F1829C variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The F1829C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Furthermore, missense mutations in nearby residues (G1832R, C1835S) have been reported in association with Ehlers-Danlos syndrome, supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded.This variant was found in TAADV2-1

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