Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002309521 | SCV002603899 | likely pathogenic | Sialic acid storage disease, severe infantile type; Salla disease | 2022-04-02 | criteria provided, single submitter | clinical testing | NM_012434.4(SLC17A5):c.436_437ins10(T146Nfs*3) is expected to be pathogenic in the context of free sialic acid storage disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in SLC17A5, 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. |