Submissions for variant NM_013382.7(POMT2):c.1683T>C (p.Asn561=)

gnomAD frequency: 0.00148  dbSNP: rs146307965

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153054	SCV000202508	benign	not specified	2015-10-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000712835	SCV000514256	likely benign	not provided	2021-03-29	criteria provided, single submitter	clinical testing
Invitae	RCV001085592	SCV000649928	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	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712835	SCV000843370	benign	not provided	2018-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001119000	SCV001277330	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.
CeGaT Center for Human Genetics Tuebingen	RCV000712835	SCV002063142	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	POMT2: BP4, BP7