ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) (rs267606745)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673273 SCV000798456 pathogenic Alport syndrome, autosomal recessive 2018-03-19 criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000681815 SCV000809287 likely pathogenic not provided 2018-09-16 no assertion criteria provided research
Invitae RCV000681815 SCV000950810 likely pathogenic not provided 2018-08-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1167 of the COL4A3 protein (p.Gly1167Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed alone and in combination with another COL4A3 variant in individuals with Alport syndrome or familial hematuria (PMID: 11134255, 27281700, 28542346). ClinVar contains an entry for this variant (Variation ID: 17492). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000019044 SCV000039331 pathogenic Alport syndrome 3, autosomal dominant 2001-01-01 no assertion criteria provided literature only

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