Submissions for variant NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)

dbSNP: rs151103906

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000712838	SCV000113503	uncertain significance	not provided	2017-11-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000303743	SCV000388988	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2N	2018-01-12	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	RCV000712838	SCV000589757	uncertain significance	not provided	2023-05-16	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23699601, 22885699, 29778030, 30564623, 17923109)
Invitae	RCV001084326	SCV000769996	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	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001705757	SCV000843373	likely benign	not specified	2019-09-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765180	SCV000896415	uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; 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	2018-10-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712838	SCV002563213	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	POMT2: BP4
PreventionGenetics, part of Exact Sciences	RCV003952518	SCV004781441	likely benign	POMT2-related disorder	2023-11-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).