ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1424C>T (p.Pro475Leu) (rs750112288)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167949 SCV000218597 benign Multiple endocrine neoplasia, type 1 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000167949 SCV000488097 likely benign Multiple endocrine neoplasia, type 1 2015-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569038 SCV000664549 likely benign Hereditary cancer-predisposing syndrome 2019-04-12 criteria provided, single submitter clinical testing Other data supporting benign classification;In silico models in agreement (benign)
GeneDx RCV000602813 SCV000732553 likely benign not specified 2017-10-25 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.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000167949 SCV000781724 likely benign Multiple endocrine neoplasia, type 1 2016-11-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000602813 SCV000805920 benign not specified 2016-12-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001105233 SCV001262165 uncertain significance Hyperparathyroidism 2018-06-07 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000167949 SCV001262166 benign Multiple endocrine neoplasia, type 1 2018-06-07 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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