ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu)

gnomAD frequency: 0.00009  dbSNP: rs200860702
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825149 SCV000966416 likely benign not specified 2018-04-17 criteria provided, single submitter clinical testing p.Pro1332Leu in exon 42 of the COL4A4 gene: This variant is not expected to have clinical significance due to a lack of conservation across species, including m ammals. Proline (Pro) at position 1332 is not conserved in mammals or evolutiona rily distant species and >10 mammals/species carry a leucine (Leu), supporting t hat this change may be tolerated. Additional computational tools suggest that t he p.Pro1332Leu variant may not impact the protein. This variant has been identi fied in 7/23716 of African chromosomes by the Genome Aggregation Database (gnomA D, http://gnomad.broadinstitute.org; dbSNP rs200860702). ACMG/AMP Criteria appli ed: BP4_Strong.
GeneDx RCV001840737 SCV002099623 uncertain significance not provided 2022-02-21 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001840737 SCV002285042 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271498 SCV001452702 uncertain significance Alport syndrome 2020-03-17 no assertion criteria provided clinical testing

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