ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=)

gnomAD frequency: 0.00029  dbSNP: rs372838090
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195566 SCV001365959 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Pro1222Pro in exon 39 of COL4A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.09% (9/9792) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs372838090).
Labcorp Genetics (formerly Invitae), Labcorp RCV001496727 SCV001701438 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001496727 SCV002044044 likely benign not provided 2021-06-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
Fulgent Genetics, Fulgent Genetics RCV002491593 SCV002804195 likely benign Autosomal recessive Alport syndrome; Benign familial hematuria 2022-04-15 criteria provided, single submitter clinical testing

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