ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) (rs147840220)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186660 SCV000171676 benign not specified 2013-07-09 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000713314 SCV000232304 uncertain significance not provided 2015-01-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000186660 SCV000248905 uncertain significance not specified 2015-04-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381855 SCV000374620 uncertain significance Early myoclonic encephalopathy 2018-01-12 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 RCV001086464 SCV000634010 benign Early infantile epileptic encephalopathy with suppression bursts 2020-11-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713314 SCV000843907 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000713314 SCV000886122 likely benign not provided 2018-04-06 criteria provided, single submitter clinical testing The c.585C>T; p.Leu195Leu variant (rs147840220, ClinVar variant ID 139140) 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. This variant has not been reported in association with mitochondrial disease in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with a non-Finnish European population frequency of 0.1% (identified on 172 out of 122,410 chromosomes). Based on the available information, the c.585C>T variant is likely to be benign.

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