Submissions for variant NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)

gnomAD frequency: 0.00029  dbSNP: rs373796566

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000811249	SCV000951506	likely benign	Hereditary spastic paraplegia 11	2025-01-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001593001	SCV001814820	uncertain significance	not provided	2025-01-07	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002397668	SCV002713932	uncertain significance	Inborn genetic diseases	2024-07-31	criteria provided, single submitter	clinical testing	The c.1775C>T (p.S592L) alteration is located in exon 9 (coding exon 9) of the SPG11 gene. This alteration results from a C to T substitution at nucleotide position 1775, causing the serine (S) at amino acid position 592 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab	RCV002468058	SCV002764102	uncertain significance	Amyotrophic lateral sclerosis type 5		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002468059	SCV002764103	uncertain significance	Charcot-Marie-Tooth disease axonal type 2X		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000811249	SCV002764104	uncertain significance	Hereditary spastic paraplegia 11		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001593001	SCV002771250	uncertain significance	not provided	2022-03-01	criteria provided, single submitter	clinical testing