ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.105dup (p.Gly36fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004805840 SCV005427234 pathogenic Ehlers-Danlos syndrome, type 4 2024-06-09 criteria provided, single submitter clinical testing This variant inserts 1 nucleotide in exon 2 of the COL3A1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with COL3A1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of COL3A1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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