Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001233634 | SCV001406238 | likely benign | Hereditary spastic paraplegia 4 | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002567885 | SCV003727488 | uncertain significance | Inborn genetic diseases | 2020-12-29 | criteria provided, single submitter | clinical testing | The c.302C>T (p.S101L) alteration is located in exon 1 (coding exon 1) of the SPAST gene. This alteration results from a C to T substitution at nucleotide position 302, causing the serine (S) at amino acid position 101 to be replaced by a leucine (L). The p.S101L alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |