Submissions for variant NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp)

dbSNP: rs104886261

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000710877	SCV000841185	pathogenic	not provided	2018-04-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000710877	SCV002234967	pathogenic	not provided	2022-01-07	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1244 of the COL4A5 protein (p.Gly1244Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of Alport syndrome (PMID: 19919694; Invitae). ClinVar contains an entry for this variant (Variation ID: 24678). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COL4A5 protein function.
Fulgent Genetics, Fulgent Genetics	RCV002496435	SCV002808847	pathogenic	X-linked Alport syndrome	2022-03-23	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000710877	SCV004227698	pathogenic	not provided	2022-09-27	criteria provided, single submitter	clinical testing	PP3, PM1, PM2_supporting, PS3_supporting, PS4_moderate
CeGaT Center for Human Genetics Tuebingen	RCV000710877	SCV005331116	pathogenic	not provided	2024-08-01	criteria provided, single submitter	clinical testing	COL4A5: PM1:Strong, PM2, PS4:Moderate, PP4, PS3:Supporting