ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.-17G>A

gnomAD frequency: 0.00001  dbSNP: rs1554772552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614795 SCV000715913 likely benign not specified 2017-02-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000614795 SCV005726779 uncertain significance not specified 2024-11-11 criteria provided, single submitter clinical testing Variant summary: COL5A1 c.-17G>A is located in the untranslated mRNA region upstream of the initiation codon. The variant was absent in 1250906 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.-17G>A in individuals affected with Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome, classic type, 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 507366). Based on the evidence outlined above, the variant was classified as uncertain significance.

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