ClinVar Miner

Submissions for variant NM_013296.5(GPSM2):c.87G>A (p.Leu29=)

gnomAD frequency: 0.01226  dbSNP: rs112935966
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Total submissions: 4
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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 RCV000038788 SCV000062466 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Leu29Leu in Exon 03 of GPSM2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 4.3% (160/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs112935966)."
GeneDx RCV000038788 SCV000524827 benign not specified 2016-06-07 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.
Invitae RCV000906230 SCV001050853 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001097693 SCV001253996 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.

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