ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.4640C>T (p.Ala1547Val) (rs780916516)

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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 RCV000825910 SCV000967395 uncertain significance not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Ala1547Val variant in COL4A4 has not been previously reported in individua ls with hearing loss or Alport syndrome, but has been identified in 5/111334 Eur opean chromosomes and 2/33578 Latino chromosomes by gnomAD (http://gnomad.broadi nstitute.org). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000625647 SCV000746150 uncertain significance Alport syndrome 3, autosomal dominant 2017-10-06 no assertion criteria provided clinical testing

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