ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp)

gnomAD frequency: 0.00026  dbSNP: rs55948916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001442689 SCV001645642 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001442689 SCV003833708 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV003485717 SCV004239056 uncertain significance Benign familial hematuria 2023-10-24 criteria provided, single submitter clinical testing COL4A4 c.2629C>T in the heterozygous state has been reported as a de novo occurrence in a patient with end stage renal disease and hearing loss who also had muscular atrophy and intellectual disability. This missense variant (rs55948916) has also been reported in ClinVar (Variation ID 1114838), and is rare (<0.1%) in a large population dataset (gnomAD v3.1.2: 39/152016 total alleles; 0.03%; no homozygotes). Two bioinformatic tools queried predict that this substitution would be tolerated, and the arginine residue at this position is evolutionarily conserved across some of the species assessed. We consider the clinical significance of c.2629C>T in COL4A4 to be uncertain at this time.

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