Submissions for variant NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu)

dbSNP: rs1574699806

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Molecular Biology Laboratory, Fundació Puigvert	RCV001281283	SCV001425012	likely pathogenic	Autosomal recessive Alport syndrome	2020-02-01	criteria provided, single submitter	research
Eurofins-Biomnis	RCV001281283	SCV003935084	likely pathogenic	Autosomal recessive Alport syndrome	2022-11-09	criteria provided, single submitter	clinical testing
GeneDx	RCV004723175	SCV005332528	pathogenic	not provided	2023-12-26	criteria provided, single submitter	clinical testing	Affects a glycine residue in a Gly-X-Y motif in the triple helical region of the COL4A3 gene, where the majority of pathogenic missense variants occur; this glycine flanks an interruption within the triple helical region; Not observed at significant frequency 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: 33838161, 30348286, Mariem2023[preprint], 33532864, 33654185)
Fulgent Genetics, Fulgent Genetics	RCV005029447	SCV005655847	likely pathogenic	Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive	2024-04-11	criteria provided, single submitter	clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	RCV000787009	SCV000925917	likely pathogenic	Autosomal dominant Alport syndrome	2019-01-04	no assertion criteria provided	clinical testing