ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4338+1G>A

dbSNP: rs1564481053
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000760147 SCV000889956 pathogenic Ehlers-Danlos syndrome, classic type 2016-09-08 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004555594 SCV005044828 likely pathogenic Ehlers-Danlos syndrome, classic type, 1 criteria provided, single submitter clinical testing The invariant splice donor c.4338+1G>A in COL5A1 gene has been submitted to ClinVar as a Pathogenic, but no details are available for independent assessment. The c.4338+1G>A variant is novel not in any individuals in 1000 Genomes and gnomAD Exomes. Functional studies are required to prove the pathogenicity for the variant. For these reasons, this variant has been classified as Likely Pathogenic.

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