Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001172135 | SCV001335093 | uncertain significance | not provided | 2020-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003246743 | SCV003966180 | uncertain significance | Inborn genetic diseases | 2023-03-21 | criteria provided, single submitter | clinical testing | The c.647C>G (p.T216S) alteration is located in exon 4 (coding exon 4) of the SPAST gene. This alteration results from a C to G substitution at nucleotide position 647, causing the threonine (T) at amino acid position 216 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |