ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3882_3883del (p.Cys1294fs)

dbSNP: rs2149956832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001535921 SCV001752569 pathogenic Autosomal recessive Alport syndrome; Benign familial hematuria 2021-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003679068 SCV004409397 pathogenic not provided 2022-11-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1179086). This variant has not been reported in the literature in individuals affected with COL4A4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys1294Trpfs*24) 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).

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