Submissions for variant NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Neuberg Centre For Genomic Medicine, NCGM	RCV002510609	SCV002820089	pathogenic	Pigmentary pallidal degeneration		criteria provided, single submitter	clinical testing	The frameshift insertion p.R183Efs*47 in PANK2 (NM_153638.4) has been reported previously in patients with NBIA from Aggarwal community (Bijarnia Mahay S et al). The p.R183Efs*47 variant is observed in 4/27,604 (0.0145%) alleles from individuals of South Asian background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. The frame shifted sequence continues 47 residues until a stop codon is reached. The p.R183Efs*47 variant is a loss of function variant in the gene PANK2, which is intolerant of Loss of Function variants, as indicated by the presence of existing pathogenic loss of function variant NP_705902.2:p.E104* and 20 others. There are 17 downstream pathogenic loss of function variants, with the furthest variant being 378 residues downstream of the variant p.R183Efs*47. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity	RCV003138286	SCV003824743	pathogenic	not provided	2023-06-02	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004817041	SCV005073299	pathogenic	Retinal dystrophy	2023-01-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002510609	SCV005661847	pathogenic	Pigmentary pallidal degeneration	2024-06-22	criteria provided, single submitter	clinical testing