ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.81_86del (p.27_28IL[1]) (rs771943519)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483576 SCV000568823 uncertain significance not provided 2018-04-12 criteria provided, single submitter clinical testing The c.81_86delACTCAT variant in the COL4A4 geme has been reported previously in three individuals with features of Alport syndrome; in two of these individuals, a second COL4A4 variant was noted, although parental testing was not performed to determine phase (Storey et al., 2013; Weber et al., 2016). This variant causes an in frame deletion of two amino acid residues, denoted p.Ile29_Leu30del. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. The c.81_86delACTCAT variant is observed in 3/23996 (0.13%) alleles from individuals of African background, and 13/276840 total alleles in large population cohorts and no individuals were reported to be homozygous (Lek et al., 2016). We interpret c.81_86delACTCAT as a variant of uncertain significance.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000408829 SCV000484945 likely pathogenic Alport syndrome 3, autosomal dominant no assertion criteria provided clinical testing

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