ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) (rs150555106)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723557 SCV000232565 uncertain significance not provided 2014-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000186087 SCV000239111 likely benign not specified 2018-02-09 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.
Fulgent Genetics,Fulgent Genetics RCV000515420 SCV000611418 uncertain significance Propionic acidemia 2017-05-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000723557 SCV000885887 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing The c.815G>A; p.Arg272Gln variant (rs150555106) has not been reported in the medical literature. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 1.1 percent in the Ashkenazi Jewish population (identified on 120 out of 10,152 chromosomes, including 2 homozygotes). The variant has also been reported to ClinVar with uncertain significance (Variation ID: 198740). The arginine at position is 272 is highly conserved considering 11 species (Alamut v2.9.0) and computational analyses of the p.Arg272Gln variant on protein structure and function indicates a deleterious effect (SIFT: damaging, MutationTaster: disease causing, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Arg272Gln variant with certainty.
Invitae RCV000515420 SCV001005964 benign Propionic acidemia 2020-12-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723557 SCV001154068 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000515420 SCV001429881 uncertain significance Propionic acidemia 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.
Nilou-Genome Lab RCV000515420 SCV001737218 uncertain significance Propionic acidemia 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000515420 SCV001460371 benign Propionic acidemia 2020-01-10 no assertion criteria provided clinical testing

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