Submissions for variant NM_000293.3(PHKB):c.555G>T (p.Met185Ile)

gnomAD frequency: 0.01025  dbSNP: rs56257827

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179286	SCV000231511	benign	not specified	2015-05-26	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000179286	SCV000296975	benign	not specified	2015-08-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000179286	SCV000518160	likely benign	not specified	2017-12-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513729	SCV000610651	likely benign	not provided	2017-05-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001117558	SCV001275758	likely benign	Glycogen storage disease IXb	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001117558	SCV001435279	benign	Glycogen storage disease IXb		criteria provided, single submitter	research	The heterozygous p.Met185Ile in PHKB has been identified in an individual with liver glycogenosis but no other variant in the gene was identified (PMID: 17689125). This variant has also been identified in >1% of European (non-Finnish) chromosomes and 17 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive liver glycogenosis.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001117558	SCV001720920	benign	Glycogen storage disease IXb	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000179286	SCV002050874	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513729	SCV002585563	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	PHKB: BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV001117558	SCV002798574	likely benign	Glycogen storage disease IXb	2021-10-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001117558	SCV004562935	benign	Glycogen storage disease IXb	2023-11-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000513729	SCV005215860	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000513729	SCV000801648	uncertain significance	not provided	2015-12-16	no assertion criteria provided	clinical testing
GeneReviews	RCV001117558	SCV004035036	not provided	Glycogen storage disease IXb		no assertion provided	literature only