Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204013 | SCV000259911 | pathogenic | Hereditary spastic paraplegia 4 | 2015-08-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Truncating variants in SPAST are known to be pathogenic. This particular truncation has been reported in a patient with hereditary spastic paraplegia (PMID: 12124993). This sequence change deletes two nucleotides from exon 12 of the SPAST mRNA (c.1437_1438delAG), causing a frameshift at codon 479. This creates a premature translational stop signal (p.Arg479Serfs*8) and is expected to result in an absent or disrupted protein product. |
Institute of Human Genetics, |
RCV000204013 | SCV001428534 | likely pathogenic | Hereditary spastic paraplegia 4 | 2018-05-28 | criteria provided, single submitter | clinical testing | |
Paris Brain Institute, |
RCV000204013 | SCV001450988 | pathogenic | Hereditary spastic paraplegia 4 | criteria provided, single submitter | clinical testing |