ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2535del (p.Leu846fs)

gnomAD frequency: 0.00002  dbSNP: rs993103826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668688 SCV000793330 likely pathogenic Autosomal recessive Alport syndrome 2017-08-11 criteria provided, single submitter clinical testing
Invitae RCV001384962 SCV001584669 pathogenic not provided 2020-12-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with COL4A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 553278). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu846Trpfs*37) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. 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. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265).
Fulgent Genetics, Fulgent Genetics RCV002493101 SCV002781072 likely pathogenic Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2022-01-24 criteria provided, single submitter clinical testing

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