ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) (rs778886174)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825317 SCV000966612 uncertain significance not specified 2018-08-08 criteria provided, single submitter clinical testing The p.Gly121Ser variant in COL4A3 has not been previously reported in individual s with hearing loss or Alport syndrome but has been identified in 4/33538 Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinst; dbSNP rs778886174). Although this variant has been seen in the genera l population, its frequency is not high enough to rule out a pathogenic role. Th is variant has also been reported in ClinVar (Variation ID 522453). Computationa l prediction tools and conservation analysis suggest that the p.Gly121Ser varian t may impact the protein, though this information is not predictive enough to de termine pathogenicity. In summary, the clinical significance of the p.Gly121Ser variant is uncertain. ACMG/AMP Criteria applied: PP3, PM2_Supporting.
Medical Genetics, University of Parma RCV001089905 SCV001245138 likely pathogenic Alport syndrome, autosomal recessive 2020-03-11 criteria provided, single submitter clinical testing
University of Iowa Renal Genetics Clinic,University of Iowa RCV001169840 SCV001250653 likely pathogenic Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive; Benign familial hematuria 2019-07-17 criteria provided, single submitter clinical testing The Gly121Ser variant in COL4A3 has been identified within a 62-year-old female with a history of hematuria, proteinuria, end-stage kidney disease, and IgA nephropathy on kidney biopsy. This individual's 41-year-old daughter has a history of microscopic hematuria and was found to have the Gly121Ser variant as well. This variant meets the following 2015 ACMG Guideline criteria: PM1, PM2, PP2, and PP3.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000625594 SCV000746093 likely pathogenic Alport syndrome 3, autosomal dominant 2017-09-18 no assertion criteria provided clinical testing

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