ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) (rs775373641)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666006 SCV000790236 uncertain significance Alport syndrome, autosomal recessive 2017-03-23 criteria provided, single submitter clinical testing
Invitae RCV001052837 SCV001217068 uncertain significance not provided 2020-09-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 148 of the COL4A3 protein (p.Gly148Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs775373641, ExAC 0.004%). This variant has been observed in individual(s) with focal segmental glomerulosclerosis or steroid resistant nephrotic syndrome (PMID: 25229338, 30406062). 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: Probably Damaging; Align-GVGD: Class C0). 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000786994 SCV000925901 pathogenic Alport syndrome 3, autosomal dominant 2018-11-27 no assertion criteria provided clinical testing
Natera, Inc. RCV001272225 SCV001454002 uncertain significance Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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