ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) (rs555143841)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673765 SCV000799004 uncertain significance Alport syndrome, autosomal recessive 2018-04-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825323 SCV000966618 uncertain significance not specified 2018-03-21 criteria provided, single submitter clinical testing The p.Arg377Cys variant in COL4A4 has not been previously reported in individual s with hearing loss or Alport syndrome. This variant is present in 0.03% (6/2392 ) African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.; dbSNP rs555143841). Although this variant has been seen in t he general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses do not provide s trong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg377Cys variant is uncertain. ACMG/AMP criteria applied : PM2_Supporting.
Natera, Inc. RCV001277172 SCV001464046 uncertain significance Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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