ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=)

gnomAD frequency: 0.00004  dbSNP: rs771026197
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725550 SCV000337703 uncertain significance not provided 2015-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000281120 SCV000533971 likely benign not specified 2017-10-05 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.
Illumina Laboratory Services, Illumina RCV001114124 SCV001271964 uncertain significance Early myoclonic encephalopathy 2018-01-15 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 RCV002518952 SCV003210179 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725550 SCV004702181 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing SLC25A22: BP4, BP7

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