ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala)

dbSNP: rs1446915781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672904 SCV000798056 likely pathogenic Autosomal recessive Alport syndrome 2018-02-21 criteria provided, single submitter clinical testing
Invitae RCV002531326 SCV003524930 pathogenic not provided 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 572 of the COL4A4 protein (p.Gly572Ala). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individuals with COL4A4-related conditions (PMID: 28542346, 36699462). ClinVar contains an entry for this variant (Variation ID: 556844). 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 COL4A4 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.

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