ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln)

gnomAD frequency: 0.00020  dbSNP: rs373741172
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000923092 SCV001068553 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000923092 SCV001474849 uncertain significance not provided 2020-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000923092 SCV004012387 uncertain significance not provided 2023-06-07 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
Natera, Inc. RCV001274061 SCV001457791 likely benign Alport syndrome 2020-05-02 no assertion criteria provided clinical testing

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