ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5370+3_5370+8delinsC

dbSNP: rs1064794972
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483786 SCV000570323 likely pathogenic not provided 2016-05-13 criteria provided, single submitter clinical testing Although the c.5370+3_5370+8delGAGTATinsC variant has not been reported as a pathogenicvariant or as a benign variant to our knowledge, it destroys the natural donor site in intron 65 and ispredicted to cause abnormal gene splicing. Multiple other splice site variants in the COL5A1 genehave been reported in HGMD in association with EDS, including another splice variant at this samedonor site (Stenson et al., 2014). Furthermore, the c.5370+3_5370+8delGAGTATinsC variant was notobserved in approximately 6,500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.5370+3_5370+8delGAGTATinsC in the COL5A1 gene is expected to be pathogenic, however the possibility it may be a rare benign variant cannot be excluded.

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