ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2420del (p.Gly807fs)

dbSNP: rs786205640
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171505 SCV000568822 pathogenic not provided 2024-02-06 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Identified in patients with autosomal recessive Alport syndrome when present in the homozygous state or when in trans with another disease-causing variant; heterozygous family members have considerable phenotypic variability, ranging from intermittent hematuria to late onset end stage renal disease (PMID: 23551117, 24398087); This variant is associated with the following publications: (PMID: 24398087, 23551117, 36177613, 32647767)
3billion RCV001808445 SCV002058910 pathogenic Autosomal recessive Alport syndrome 2022-01-03 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000191313, PMID:23551117). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001808445 SCV004807138 uncertain significance Autosomal recessive Alport syndrome 2024-03-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000171505 SCV005413559 pathogenic not provided 2023-09-26 criteria provided, single submitter clinical testing PP1_strong, PM2, PM3, PS4_moderate, PVS1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171505 SCV000221704 likely pathogenic not provided flagged submission research

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