ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs)

dbSNP: rs1385106410
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388586 SCV001589638 pathogenic not provided 2023-08-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of Alport syndrome and thin basement membrane nephropathy (PMID: 25307543). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Lys34Leufs*2) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700).
Fulgent Genetics, Fulgent Genetics RCV002499809 SCV002811143 pathogenic Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-08-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826180 SCV002076368 pathogenic Alport syndrome 2020-10-06 no assertion criteria provided clinical testing

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