ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.*470A>G

gnomAD frequency: 0.00048  dbSNP: rs778272737
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000302380 SCV000373067 uncertain significance Hyperparathyroidism 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.
Illumina Laboratory Services, Illumina RCV000359433 SCV000373068 uncertain significance Multiple endocrine neoplasia, type 1 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.
Aziz Sancar Institute of Experimental Medicine, Istanbul University RCV000736006 SCV000611859 likely pathogenic Somatotroph adenoma 2017-12-05 criteria provided, single submitter research Depicted in ClinVar through clinical testing as uncertain clinical significance. Detected in our cohort of FIPA patients, associated with clinical findings.
Mendelics RCV002248514 SCV002518231 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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