ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3304del (p.Asp1102fs) (rs1569504068)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV000785927 SCV000924506 likely pathogenic Alport syndrome 1, X-linked recessive 2018-06-15 criteria provided, single submitter research The hemizygous p.Asp1102IlefsTer50 variant was identified by our study in an individual with Alport syndrome. This variant was absent from large population studies. Loss of function of the COL4A5 gene is an established disease mechanism in X-Linked Alport syndrome, and this is a loss of function variant. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.

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