Submissions for variant NM_177400.3(NKX6-2):c.196del (p.Arg66fs)

dbSNP: rs1554961118

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000599464	SCV000710169	pathogenic	not provided	2023-05-26	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation, as the last 212 amino acids are replaced with 121 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29388673, 32860008, 28940097, 31509304)
Centogene AG - the Rare Disease Company	RCV000723340	SCV001426486	likely pathogenic	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000723340	SCV004807521	pathogenic	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	2024-03-29	criteria provided, single submitter	clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000723340	SCV000854738	pathogenic	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	2018-06-28	no assertion criteria provided	clinical testing
GeneReviews	RCV000723340	SCV000902483	not provided	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		no assertion provided	literature only
Yale Center for Mendelian Genomics, Yale University	RCV000723340	SCV002106665	pathogenic	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	2020-02-27	no assertion criteria provided	literature only