Submissions for variant NM_002591.4(PCK1):c.1448G>A (p.Arg483Gln)

gnomAD frequency: 0.00218  dbSNP: rs41302559

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000960533	SCV001107520	likely benign	not provided	2024-01-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001142976	SCV001303470	uncertain significance	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	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.
CeGaT Center for Human Genetics Tuebingen	RCV000960533	SCV004698388	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PCK1: BS2
PreventionGenetics, part of Exact Sciences	RCV003926126	SCV004745935	likely benign	PCK1-related condition	2022-10-31	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).