Submissions for variant NM_013382.7(POMT2):c.1701C>G (p.Pro567=)

gnomAD frequency: 0.00062  dbSNP: rs151051452

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724544	SCV000226498	uncertain significance	not provided	2018-06-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000381501	SCV000388975	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2N	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	RCV000175070	SCV000514257	benign	not specified	2015-04-06	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	RCV000175070	SCV000614755	uncertain significance	not specified	2016-12-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087189	SCV000649929	likely benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724544	SCV001249960	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	POMT2: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724544	SCV001930681	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724544	SCV001967808	likely benign	not provided		no assertion criteria provided	clinical testing