ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter)

dbSNP: rs1971792460
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264050 SCV001442150 likely pathogenic Autosomal recessive Alport syndrome 2019-04-06 criteria provided, single submitter clinical testing
Invitae RCV002537665 SCV003299618 pathogenic not provided 2023-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1116*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL4A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 984045). For these reasons, this variant has been classified as Pathogenic.

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