ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1523G>A (p.Gly508Asp) (rs375804228)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001000155 SCV000166706 benign Multiple endocrine neoplasia, type 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491076 SCV000579698 likely benign Hereditary cancer-predisposing syndrome 2019-04-11 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign);Other data supporting benign classification
GeneDx RCV000616587 SCV000730548 likely benign not specified 2017-02-24 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000155 SCV001156641 likely benign Multiple endocrine neoplasia, type 1 2019-05-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001000155 SCV001262161 benign Multiple endocrine neoplasia, type 1 2017-04-27 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001105230 SCV001262162 likely benign Hyperparathyroidism 2017-04-27 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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