Submissions for variant NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)

dbSNP: rs1131691795

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000493988	SCV000582863	pathogenic	not provided	2023-01-25	criteria provided, single submitter	clinical testing	Affects a glycine residue in a Gly-X-Y motif in the triple helical region of the COL4A5 gene, where the majority of pathogenic missense variants occur, and is predicted to disrupt normal protein folding and function (HGMD; Jais et al., 2000); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24304881)
Athena Diagnostics Inc	RCV000493988	SCV001880717	pathogenic	not provided	2021-03-18	criteria provided, single submitter	clinical testing	This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. This variant alters a critical location within the protein, and is expected to severely affect function and cause disease.
Fulgent Genetics, Fulgent Genetics	RCV000714462	SCV002810344	likely pathogenic	X-linked Alport syndrome	2022-05-13	criteria provided, single submitter	clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	RCV000714462	SCV001468174	pathogenic	X-linked Alport syndrome	2020-01-08	no assertion criteria provided	clinical testing