ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3713C>G (p.Thr1238Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002640509 SCV003519948 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003395623 SCV004118929 uncertain significance COL4A3-related disorder 2023-09-11 criteria provided, single submitter clinical testing The COL4A3 c.3713C>G variant is predicted to result in the amino acid substitution p.Thr1238Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.097% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-228162537-C-G). 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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