ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.361G>A (p.Gly121Ser) (rs778886174)

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Total submissions: 2
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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 itute.org; 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.
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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