ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.687+5G>A (rs1556405930)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497558 SCV000589709 likely pathogenic not provided 2016-01-14 criteria provided, single submitter clinical testing The c.687+5G>A variant in the COL4A5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to damage or destroy the natural splice donor site in intron 12, and is expected to cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. The c.687+5G>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.687+5G>A variant is a strong candidate for a pathogenic variant however, the possibility it may be a rare benign variant cannot be excluded
Counsyl RCV000984250 SCV001132371 uncertain significance Alport syndrome 1, X-linked recessive 2017-09-29 no assertion criteria provided clinical testing

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