ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.646G>A (p.Gly216Arg)

dbSNP: rs104886067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory, Columbia University RCV000681913 SCV000809396 pathogenic not provided 2018-09-16 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000681913 SCV003445314 uncertain significance not provided 2021-12-23 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Alport syndrome (PMID: 8738805). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Gly216 amino acid residue in COL4A5. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20378821, 22921432; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 24307). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 216 of the COL4A5 protein (p.Gly216Arg).

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