ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.5317del (p.Glu1773fs) (rs1554726283)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634585 SCV000755915 uncertain significance Ehlers-Danlos syndrome, classic type 2017-12-27 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 65 of the COL5A1 mRNA (c.5317delG), causing a frameshift at codon 1773. This creates a frameshift in the penultimate exon of the COL5A1 mRNA (p.Glu1773Argfs*94). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acids of the COL5A1 protein, and to extend the protein by an additional 27 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL5A1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. 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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