ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1785dup (p.Gly596fs)

dbSNP: rs2150505385
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001536103 SCV001752815 pathogenic Autosomal recessive Alport syndrome; Benign familial hematuria 2022-02-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002307751 SCV002604563 likely pathogenic Autosomal recessive Alport syndrome 2022-03-15 criteria provided, single submitter clinical testing NM_000092.4(COL4A4):c.1785dupA(G596Rfs*10) is expected to be pathogenic in the context of COL4A4-related Alport syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in COL4A4, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Invitae RCV003688941 SCV004435644 pathogenic not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly596Argfs*10) 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: 1179194). For these reasons, this variant has been classified as Pathogenic.

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