ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2171G>A (p.Arg724His)

gnomAD frequency: 0.00009  dbSNP: rs200146486
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483855 SCV000573566 uncertain significance not provided 2023-09-14 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000483855 SCV001702359 likely benign not provided 2024-05-20 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625621 SCV000746122 uncertain significance Autosomal dominant Alport syndrome 2017-09-18 no assertion criteria provided clinical testing
Natera, Inc. RCV001274053 SCV001457779 likely benign Alport syndrome 2019-10-28 no assertion criteria provided clinical testing

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