ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)

gnomAD frequency: 0.00012  dbSNP: rs200759521
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262385 SCV001440232 uncertain significance Autosomal recessive Alport syndrome 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001586098 SCV001813803 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001586098 SCV002393851 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830063 SCV002078903 uncertain significance Alport syndrome 2020-02-10 no assertion criteria provided clinical testing

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