ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.5077G>A (p.Ala1693Thr) (rs560195385)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489504 SCV000577576 uncertain significance not provided 2018-07-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL5A1 gene. The A1693T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 33/124,766 (0.03%) alleles from individuals of non-Finnish European ancestry in large population cohorts (Lek et al., 2016). The A1693T 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. Nevertheless, in-silico analyses, including protein predictors and evolutionary conservation, is inconclusive as to whether this variant impacts protein structure/function. Additionally, this variant occurs in an alternate transcript of the COL5A1 gene, and no variants in this transcript have been reported in the Human Gene Mutation Database in association with EDS (Stenson et al., 2014).
GenomeConnect, ClinGen RCV000509316 SCV000607020 not provided Ehlers-Danlos syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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