Submissions for variant NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)

gnomAD frequency: 0.00205  dbSNP: rs139738333

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179287	SCV000231512	uncertain significance	not provided	2014-10-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001083212	SCV000397063	uncertain significance	Glycogen storage disease IXb	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV001083212	SCV000634746	likely benign	Glycogen storage disease IXb	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000179287	SCV001792042	likely benign	not provided	2021-06-05	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity	RCV001083212	SCV003812860	uncertain significance	Glycogen storage disease IXb	2021-12-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000179287	SCV004139269	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PHKB: BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000179287	SCV004227571	uncertain significance	not provided	2022-10-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927676	SCV004746436	likely benign	PHKB-related condition	2022-06-10	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).