ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter)

dbSNP: rs2150595867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001780552 SCV002232588 pathogenic not provided 2021-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln511*) in the COL4A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A4 are known to be pathogenic (PMID: 21196518, 24854265, 25307543). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with COL4A4-related conditions. This variant is not present in population databases (ExAC no frequency).
Fulgent Genetics, Fulgent Genetics RCV002489829 SCV002802935 likely pathogenic Autosomal recessive Alport syndrome; Benign familial hematuria 2021-08-22 criteria provided, single submitter clinical testing

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