ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1153G>T (p.Gly385Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309460 SCV002603838 likely pathogenic Autosomal recessive Alport syndrome 2021-12-07 criteria provided, single submitter clinical testing NM_000092.4(COL4A4):c.1153G>T(G385*) is expected to be pathogenic in the context of COL4A4-related Alport syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in COL4A4, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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