ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp)

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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 RCV003073021 SCV003472250 likely benign not provided 2025-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005028209 SCV005653956 uncertain significance Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 2024-04-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529202 SCV004109154 uncertain significance COL4A4-related disorder 2024-05-30 no assertion criteria provided clinical testing The COL4A4 c.2722C>T variant is predicted to result in the amino acid substitution p.Arg908Trp. This variant has been reported as a variant of uncertain significance in a daughter with hematuria, but was not detected in the similarly affected father (Slajpah et al. 2007. PubMed ID: 17396119). This variant is reported in 0.038% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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