Submissions for variant NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)

dbSNP: rs375189195

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001759480	SCV001994909	uncertain significance	not provided	2020-08-12	criteria provided, single submitter	clinical testing	Observed in the homozygous state in a family with intellectual disability and global developmental delay in published literature (Monies et al., 2019); Nonsense variant predicted to result in protein truncation as the last 114 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); This variant is associated with the following publications: (PMID: 31585110, 31079898, 31130284)
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000788045	SCV004801143	likely pathogenic	Intellectual developmental disorder, autosomal recessive 71	2024-03-14	criteria provided, single submitter	research
OMIM	RCV000788045	SCV000927062	pathogenic	Intellectual developmental disorder, autosomal recessive 71	2019-07-19	no assertion criteria provided	literature only
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	RCV000788045	SCV003927807	pathogenic	Intellectual developmental disorder, autosomal recessive 71	2023-04-01	no assertion criteria provided	clinical testing