Submissions for variant NM_015046.7(SETX):c.12TTG[1] (p.Cys5del)

dbSNP: rs774123592

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000517034	SCV000615159	uncertain significance	not specified	2016-12-28	criteria provided, single submitter	clinical testing
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia	RCV001255858	SCV001424036	uncertain significance	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001851460	SCV002177551	uncertain significance	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2021-08-24	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with autosomal recessive SETX-related conditions (PMID: 32488064). This variant is present in population databases (rs774123592, ExAC 0.001%). This variant, c.15_17del, results in the deletion of 1 amino acid(s) of the SETX protein (p.Cys5del), but otherwise preserves the integrity of the reading frame.
Genome-Nilou Lab	RCV003233667	SCV003931615	uncertain significance	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233668	SCV003931616	uncertain significance	Amyotrophic lateral sclerosis type 4	2023-02-08	criteria provided, single submitter	clinical testing