ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)

dbSNP: rs144282156
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000782218 SCV001113894 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000782218 SCV001753535 likely benign not provided 2021-06-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 7706490, 9195222)
Genome-Nilou Lab RCV001580476 SCV001810363 likely benign X-linked Alport syndrome 2021-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001580476 SCV002804931 likely benign X-linked Alport syndrome 2022-05-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003417844 SCV004114978 uncertain significance COL4A5-related condition 2023-09-05 criteria provided, single submitter clinical testing The COL4A5 c.4264C>T variant is predicted to result in the amino acid substitution p.Arg1422Cys. This variant was reported in two individuals with Alport syndrome along with a second potentially pathogenic variant (Guo. 1995. PubMed ID: 7706490; Table S3, Domingo-Gallego. 2022. PubMed ID: 33532864). This variant is reported in 0.067% of alleles in individuals of European (Non-Finnish) descent in gnomAD, including 28 hemizygous individuals (http://gnomad.broadinstitute.org/variant/X-107929326-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Gharavi Laboratory, Columbia University RCV000782218 SCV000920705 uncertain significance not provided 2018-09-16 no assertion criteria provided research
Natera, Inc. RCV001580476 SCV002083673 likely benign X-linked Alport syndrome 2020-03-04 no assertion criteria provided clinical testing

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