ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.616G>T (p.Val206Leu) (rs147945506)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676961 SCV000239151 benign not provided 2018-09-14 criteria provided, single submitter clinical testing Observed in apparent homozygous state in a patient with pyruvate carboxylase deficiency who was also homozygous for another PC variant that the authors concluded was disease causing based on enzyme activity in patient fibroblasts (Ortez et al., 2013); In silico analysis supports that this missense variant does not alter protein structure/function; In addition, in silico splice predictors suggest this variant may lead to abnormal gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 23973720)
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000676961 SCV000884286 likely benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Invitae RCV001083901 SCV001107529 benign Pyruvate carboxylase deficiency 2020-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001083901 SCV001260891 uncertain significance Pyruvate carboxylase deficiency 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000676961 SCV000802787 benign not provided 2017-10-12 no assertion criteria provided clinical testing

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