ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) (rs868002181)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517367 SCV000612944 pathogenic not provided 2016-03-25 criteria provided, single submitter clinical testing
GeneDx RCV000517367 SCV001982067 pathogenic not provided 2021-09-20 criteria provided, single submitter clinical testing Reported as a single heterozygous variant in several unrelated individuals with features suggestive of Alport syndrome (Gast et al., 2016; Sen et al., 2017; Connaughton et al., 2019; Yao et al., 2019); of note, one individual inherited this variant from an unaffected parent; Reported with a pathogenic variant on the opposite allele (in trans) with a second COL4A3 variant in an individual with features suggestive of Alport syndrome (Storey et al., 2013); Affects a glycine residue in a Gly-X-Y motif in the triple helical region of the COL4A3 gene, where the majority of pathogenic missense variants occur, and is predicted to disrupt normal protein folding and function (Stenson et al., 2014; Jais et al., 2000); Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28780565, 24077912, 10752524, 24052634, 30773290, 26346198, 30647093)
Counsyl RCV000668107 SCV000792658 pathogenic Alport syndrome, autosomal recessive 2017-07-07 no assertion criteria provided clinical testing
Gharavi Laboratory,Columbia University RCV000517367 SCV000809252 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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