Submissions for variant NM_013296.5(GPSM2):c.2043G>A (p.Ser681=)

gnomAD frequency: 0.00176  dbSNP: rs140949805

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038782	SCV000062460	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Ser681Ser in Exon 15 of GPSM2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.4% (25/7020) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs140949805)."
GeneDx	RCV000728743	SCV000523815	likely benign	not provided	2021-02-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000728743	SCV000856352	uncertain significance	not provided	2017-09-01	criteria provided, single submitter	clinical testing
Invitae	RCV000728743	SCV001110936	likely benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001097788	SCV001254101	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory, University of Chicago	RCV000038782	SCV002065828	likely benign	not specified	2018-04-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000728743	SCV004124154	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	GPSM2: BP4, BP7