ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1924-13_1924-2del

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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 RCV003042133 SCV003327728 uncertain significance Ehlers-Danlos syndrome, type 4 2022-03-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 disrupt the consensus splice site. This variant has been observed in individual(s) with clinical features of vascular Ehlers-Danlos syndrome (external communication). This sequence change falls in intron 27 of the COL3A1 gene. It does not directly change the encoded amino acid sequence of the COL3A1 protein.

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