ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr)

gnomAD frequency: 0.02860  dbSNP: rs17379472
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000146040 SCV000168699 benign not specified 2014-02-20 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.
Genetic Services Laboratory, University of Chicago RCV000146040 SCV000193195 likely benign not specified 2013-03-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000146040 SCV000311237 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001117692 SCV001275910 benign Bilateral frontoparietal polymicrogyria 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 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001511489 SCV001718748 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001511489 SCV005218495 likely benign not provided criteria provided, single submitter not provided
Athena Diagnostics RCV000146040 SCV005620872 benign not specified 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001117692 SCV002089406 likely benign Bilateral frontoparietal polymicrogyria 2019-11-26 no assertion criteria provided clinical testing

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