ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.40_41del (p.Leu14fs)

dbSNP: rs2523832979
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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. RCV002310014 SCV002604264 likely pathogenic X-linked Alport syndrome 2022-02-25 criteria provided, single submitter clinical testing NM_000495.4(COL4A5):c.40_41delTT(L14Tfs*25) is expected to be pathogenic in the context of X-linked 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 COL4A5, 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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