ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2794G>T (p.Ala932Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003053015 SCV003447377 likely benign not provided 2024-02-16 criteria provided, single submitter clinical testing
GeneDx RCV003053015 SCV004040130 uncertain significance not provided 2023-03-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter 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

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