Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002308449 | SCV002603382 | likely pathogenic | Lysosomal acid lipase deficiency | 2022-01-02 | criteria provided, single submitter | clinical testing | NM_000235.2(LIPA):c.384delA(K128Nfs*33) is expected to be pathogenic in the context of lysosomal acid lipase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in LIPA, 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. |