ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) (rs104886228)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory,Columbia University RCV000681895 SCV000809374 likely pathogenic not provided 2018-09-16 criteria provided, single submitter research
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000021509 SCV000889954 pathogenic Alport syndrome 1, X-linked recessive 2017-02-23 criteria provided, single submitter clinical testing
Invitae RCV000681895 SCV001222920 pathogenic not provided 2019-11-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1143 of the COL4A5 protein (p.Gly1143Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with X-linked dominant Alport syndrome (PMID: 7969679). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 24630). Glycine residues within the Gly-Xaa-Yaa repeats of the triple helix domain are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). In COL4A5, missense variants at these glycine residues are significantly enriched in individuals with disease (PMID: 23720012, 27627812) compared to the general population (ExAC). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000021509 SCV000042175 moderate Alport syndrome 1, X-linked recessive 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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