Submissions for variant NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg)

dbSNP: rs61754640

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038779	SCV000062457	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Gly356Arg in Exon 10 of GPSM2: This variant is not expected to have clinical sig nificance because it has been identified in 3.3% (233/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs61754640).
PreventionGenetics, part of Exact Sciences	RCV000038779	SCV000311959	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001001606	SCV000347056	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.
GeneDx	RCV000038779	SCV000521938	benign	not specified	2016-02-26	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	RCV000992087	SCV001144076	benign	not provided	2018-11-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001606	SCV001159044	benign	Chudley-McCullough syndrome	2023-11-11	criteria provided, single submitter	clinical testing
Invitae	RCV000992087	SCV002406877	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing