ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys)

dbSNP: rs104886255
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000021555 SCV001149736 pathogenic X-linked Alport syndrome 2018-09-25 criteria provided, single submitter clinical testing
Invitae RCV001857352 SCV002218703 pathogenic not provided 2021-10-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly1241 amino acid residue in COL4A5. Other variant(s) that disrupt this residue have been observed in individuals with COL4A5-related conditions (PMID: 20378821; Invitae), which suggests that this may be a clinically significant amino acid residue. 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. ClinVar contains an entry for this variant (Variation ID: 24676). This missense change has been observed in individuals with clinical features of Alport syndrome (PMID: 7599631; Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with cysteine at codon 1241 of the COL4A5 protein (p.Gly1241Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine.
Fulgent Genetics, Fulgent Genetics RCV000021555 SCV002799016 pathogenic X-linked Alport syndrome 2022-01-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000021555 SCV003819262 pathogenic X-linked Alport syndrome 2022-12-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000021555 SCV003835663 pathogenic X-linked Alport syndrome 2022-06-14 criteria provided, single submitter clinical testing

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