ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) (rs607969)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034787 SCV000604202 likely benign not provided 2017-05-09 criteria provided, single submitter clinical testing The MEN1 c.512G>A;p.Arg171Gln variant has been described in the ClinVar database (Variation ID: 41854) and the dbSNP variant database (rs607969) with an allele frequency of 2.0945 percent in European Americans in the Exome Variant Server and an allele frequency of 1.78 percent in Europeans in the Exome Aggregation Consortium including several homozygotes. The arginine at codon 171 is not well conserved across a variety of species but computational programs (PolyPhen2, SIFT) do not reach a consensus as to the effect of this variant. This variant has been published in the literature in individuals and families with MEN1 disease (De Carlo 2008). However, we have observed this variant and a pathogenic variant in an individual. Therefore, this variant is considered likely benign. References: De Carlo E et al. Isolated R171Q amino acid change in MEN1 gene: polymorphism or mutation? Clin Endocrinol (Oxf) 2008 69(3):511.
Ambry Genetics RCV000210794 SCV000579620 benign Hereditary cancer-predisposing syndrome 2015-06-19 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034787 SCV000043288 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
CSER_CC_NCGL; University of Washington Medical Center RCV000119143 SCV000212193 likely benign Multiple endocrine neoplasia, type 1 2015-03-11 criteria provided, single submitter research
Center for Human Genetics, Inc RCV000119143 SCV000781719 uncertain significance Multiple endocrine neoplasia, type 1 2016-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000119143 SCV000488436 benign Multiple endocrine neoplasia, type 1 2016-03-28 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202713 SCV000258235 benign Multiple endocrine neoplasia 2015-05-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082337 SCV000114300 benign not specified 2014-08-20 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000119143 SCV000986894 not provided Multiple endocrine neoplasia, type 1 no assertion provided phenotyping only Variant interpretted as Likely benign and reported on 10/30/2014 by GTR ID 320384. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
ITMI RCV000082337 SCV000085510 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000202713 SCV000373101 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000119143 SCV000153859 benign Multiple endocrine neoplasia, type 1 2017-08-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082337 SCV000303133 benign not specified criteria provided, single submitter clinical testing
Vantari Genetics RCV000210794 SCV000267040 benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing

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