ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.243_244del (p.Asn82fs)

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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. RCV002307340 SCV002604812 likely pathogenic Argininosuccinate lyase deficiency 2021-12-16 criteria provided, single submitter clinical testing NM_001024943.1(ASL):c.243_244delGA(N82Lfs*3) is expected to be pathogenic in the context of argininosuccinic aciduria. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ASL, 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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