Submissions for variant NM_017825.3(ADPRS):c.414_418del (p.Ala139fs)

dbSNP: rs1557733597

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	RCV000721142	SCV003837555	pathogenic	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures		criteria provided, single submitter	clinical testing
Neuberg Centre For Genomic Medicine, NCGM	RCV000721142	SCV004047782	pathogenic	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures		criteria provided, single submitter	clinical testing	The frame shift (c.414_418del) variant has been reported previously in patients affected with Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (Ghosh et. al., 2018). The p.Ala139GlyfsTer4 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic. This variant causes a frameshift starting with codon Alanine 139, changes this amino acid to Glycine residue, and creates a premature stop codon at position 4 of the new reading frame, denoted p.Ala139GlyfsTer4. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic.
OMIM	RCV000721142	SCV000852025	pathogenic	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	2018-11-08	no assertion criteria provided	literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV002251751	SCV002522453	pathogenic	not provided		no assertion criteria provided	clinical testing