Submissions for variant NM_152263.4(TPM3):c.92A>C (p.Lys31Thr)

gnomAD frequency: 0.00596  dbSNP: rs62000429

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194376	SCV000249173	likely benign	not specified	2015-05-13	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000194376	SCV000269885	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Lys31Thr in exon 1 of TPM3: This variant is not expected to have clinical signif icance because it has been identified in 1.9% (81/4196) of African American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS; dbSNP rs62000429).
GeneDx	RCV000549857	SCV000514952	benign	not provided	2018-04-18	criteria provided, single submitter	clinical testing
Invitae	RCV001085350	SCV000635072	benign	Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000549857	SCV001146218	likely benign	not provided	2019-07-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001098781	SCV001255169	likely benign	Congenital myopathy 4B, autosomal recessive	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.
Illumina Laboratory Services, Illumina	RCV001100612	SCV001257140	benign	Congenital myopathy with fiber type disproportion	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.
PreventionGenetics, part of Exact Sciences	RCV003907708	SCV004719297	benign	TPM3-related condition	2019-05-29	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).