ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1254C>T (p.Asp418=) (rs2071313)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082332 SCV000114295 benign not specified 2018-06-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082332 SCV000303131 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000999731 SCV000373095 benign Multiple endocrine neoplasia, type 1 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000318798 SCV000373096 benign Hyperparathyroidism 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV000491125 SCV000579618 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000999731 SCV000604198 benign Multiple endocrine neoplasia, type 1 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000999731 SCV000628032 benign Multiple endocrine neoplasia, type 1 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000082332 SCV000711427 benign not specified 2016-12-15 criteria provided, single submitter clinical testing p.Asp423Asp in exon 10 of MEN1: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 42% (53295/126568) of European chromosomes by the Genome Ag gregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs2071313).

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