ClinVar Miner

Submissions for variant NM_013296.5(GPSM2):c.1370C>T (p.Thr457Met)

gnomAD frequency: 0.03137  dbSNP: rs35089879
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038780 SCV000062458 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Thr457Met in Exon 12 of GPSM2: This variant is not expected to have clinical sig nificance because it has been identified in 7.2% (270/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs35089879).
PreventionGenetics, part of Exact Sciences RCV000038780 SCV000311960 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333660 SCV000347061 likely benign Chudley-McCullough syndrome 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000038780 SCV000519413 benign not specified 2016-03-14 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.
Athena Diagnostics Inc RCV000992088 SCV001144077 benign not provided 2018-10-12 criteria provided, single submitter clinical testing
Invitae RCV000992088 SCV002427469 benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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