ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys)

gnomAD frequency: 0.00036  dbSNP: rs145679691
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145554 SCV000192647 uncertain significance Microcephaly 6, primary, autosomal recessive 2014-01-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000179958 SCV000232281 uncertain significance not provided 2015-02-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342414 SCV000383513 uncertain significance Seckel syndrome 4 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.
Illumina Laboratory Services, Illumina RCV000145554 SCV000383514 uncertain significance Microcephaly 6, primary, autosomal recessive 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.
Fulgent Genetics, Fulgent Genetics RCV000515181 SCV000611447 uncertain significance Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000179958 SCV002485346 likely benign not provided 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000179958 SCV004132921 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing CENPJ: BP4

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