Submissions for variant NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del)

dbSNP: rs1555989523

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000597489	SCV000707332	likely pathogenic	not provided	2017-04-18	criteria provided, single submitter	clinical testing
Invitae	RCV001042605	SCV001206299	pathogenic	Glycogen storage disease IXa1	2022-06-09	criteria provided, single submitter	clinical testing	This variant has been observed in individual(s) with glycogen storage disease type IX (PMID: 17689125, 26157701, 27103379, 34277355). In at least one individual the variant was observed to be de novo. This variant, c.3210_3212del, results in the deletion of 1 amino acid(s) of the PHKA2 protein (p.Arg1072del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant is also known as c.3208_3210delGAG. ClinVar contains an entry for this variant (Variation ID: 501100). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Lab, CHRU Brest	RCV001042605	SCV004697668	pathogenic	Glycogen storage disease IXa1		criteria provided, single submitter	clinical testing
Genomics And Bioinformatics Analysis Resource, Columbia University	RCV001042605	SCV004024097	likely pathogenic	Glycogen storage disease IXa1		no assertion criteria provided	research