ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.555G>T (p.Met185Ile) (rs56257827)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 Clinical Services Laboratory,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 Institute Rare Disease Group, Broad Institute 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.
Invitae RCV001117558 SCV001720920 benign Glycogen storage disease IXb 2020-11-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000513729 SCV000801648 uncertain significance not provided 2015-12-16 no assertion criteria provided clinical testing

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