ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)

gnomAD frequency: 0.00045  dbSNP: rs146300431
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147514 SCV000171681 benign not specified 2014-01-07 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.
Genetic Services Laboratory,University of Chicago RCV000147514 SCV000194951 likely benign not specified 2013-06-06 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000725476 SCV000337201 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000301063 SCV000374610 uncertain significance Early myoclonic encephalopathy 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 RCV001084573 SCV000634016 likely benign Early infantile epileptic encephalopathy with suppression bursts 2021-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720520 SCV000851397 likely benign Seizure 2016-12-08 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000725476 SCV000886123 likely benign not provided 2018-03-07 criteria provided, single submitter clinical testing The c.876G>A variant (rs146300431) does not alter the amino acid sequence of the SLC25A22 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. Furthermore, the nucleotide at position 876 is not conserved (Alamut software v2.10.0). To our knowledge, this variant has not been reported in the medical literature, but it is reported in the ClinVar database (Variation ID: 139145). This variant is found in the general population with an overall allele frequency of 0.072% (185/257,976 alleles) in the Genome Aggregation Database. Based on these observations, the c.876G>A variant is likely to be benign.
Athena Diagnostics Inc RCV000147514 SCV001475510 benign not specified 2020-04-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725476 SCV001500443 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing

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