ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.431C>T (p.Ser144Leu)

gnomAD frequency: 0.00019  dbSNP: rs368884003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001837700 SCV002098296 uncertain significance not provided 2021-08-17 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 X 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 X position is not a common mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002503338 SCV002812788 uncertain significance Autosomal recessive Alport syndrome; Benign familial hematuria 2022-02-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001837700 SCV003468293 benign not provided 2023-12-12 criteria provided, single submitter clinical testing

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