Submissions for variant NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)

gnomAD frequency: 0.00017  dbSNP: rs199498900

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000712827	SCV000338992	uncertain significance	not provided	2018-03-08	criteria provided, single submitter	clinical testing
Invitae	RCV000540929	SCV000649904	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2024-01-24	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712827	SCV000843362	uncertain significance	not provided	2017-09-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002519193	SCV003679830	likely benign	Inborn genetic diseases	2022-02-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity	RCV000712827	SCV003811831	uncertain significance	not provided	2023-05-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543069	SCV004766411	likely benign	POMT1-related disorder	2022-06-27	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).