Submissions for variant NM_001077365.2(POMT1):c.1692G>A (p.Arg564=)

gnomAD frequency: 0.02208  dbSNP: rs34954751

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118032	SCV000152353	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000118032	SCV000171150	benign	not specified	2014-03-21	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000118032	SCV000269708	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Arg586Arg in exon 17 of POMT1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 3.4% (291/8600) o f European American chromosomes by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS/; dbSNP rs34954751).
PreventionGenetics, part of Exact Sciences	RCV000118032	SCV000311739	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528768	SCV000649883	benign	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712815	SCV000843349	benign	not provided	2017-08-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001166761	SCV001329167	benign	Autosomal recessive limb-girdle muscular dystrophy type 2K	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics	RCV000712815	SCV005316725	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000118032	SCV001799166	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000118032	SCV001922494	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000712815	SCV001968723	likely benign	not provided		no assertion criteria provided	clinical testing