ClinVar Miner

Submissions for variant NM_002591.4(PCK1):c.550G>C (p.Val184Leu)

gnomAD frequency: 0.89165  dbSNP: rs707555
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000990319 SCV000434495 benign Phosphoenolpyruvate carboxykinase deficiency, cytosolic 2018-03-06 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics RCV000990319 SCV001141258 benign Phosphoenolpyruvate carboxykinase deficiency, cytosolic 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001672595 SCV001883547 benign not provided 2018-10-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19070910)
Genome-Nilou Lab RCV000990319 SCV002029439 benign Phosphoenolpyruvate carboxykinase deficiency, cytosolic 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001672595 SCV002408080 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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