ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.913G>T (p.Glu305Ter)

dbSNP: rs104886081
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389668 SCV001591115 pathogenic not provided 2020-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL4A5 are known to be pathogenic (PMID: 9195222, 10752524, 14514738, 24854265, 26809805). This variant has been observed in individual(s) with clinical features of Alport syndrome (PMID: 10094548). This variant is also known as 1115G>T, E305X. ClinVar contains an entry for this variant (Variation ID: 24341). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu305*) in the COL4A5 gene. It is expected to result in an absent or disrupted protein product.

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