ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala)

gnomAD frequency: 0.00001  dbSNP: rs1559594442
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001535948 SCV001752609 likely pathogenic Autosomal recessive Alport syndrome; Benign familial hematuria 2022-02-10 criteria provided, single submitter clinical testing
GeneDx RCV003442821 SCV004170087 likely pathogenic not provided 2023-10-18 criteria provided, single submitter clinical testing Located within triple-helical region and replaces the G position in the canonical G-X-Y repeat; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280848 SCV001468192 likely pathogenic Autosomal recessive Alport syndrome 2020-06-26 no assertion criteria provided clinical testing

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