ClinVar Miner

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

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Total submissions: 5
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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 Fairview: 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 2019-11-28 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV000021509 SCV001429110 likely pathogenic Alport syndrome 1, X-linked recessive 2017-12-12 criteria provided, single submitter clinical testing
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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