ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.799-7C>A

gnomAD frequency: 0.00001  dbSNP: rs879227018
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000317167 SCV000425663 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002229965 SCV001396602 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2023-05-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 333148). This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 11 of the COL5A2 gene. It does not directly change the encoded amino acid sequence of the COL5A2 protein.

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