ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1924-11T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003595499 SCV004343666 likely pathogenic Ehlers-Danlos syndrome, classic type, 1 2023-09-10 criteria provided, single submitter clinical testing This sequence change falls in intron 28 of the COL5A2 gene. It does not directly change the encoded amino acid sequence of the COL5A2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Ehlers-Danlos syndrome (PMID: 28485813; Invitae). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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