Submissions for variant NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)

gnomAD frequency: 0.00006  dbSNP: rs747506380

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000712829	SCV000340502	uncertain significance	not provided	2016-03-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000712829	SCV000573194	uncertain significance	not provided	2022-01-20	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30564623)
Athena Diagnostics	RCV000712829	SCV000843364	uncertain significance	not provided	2017-12-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764805	SCV000895950	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	2021-07-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001041917	SCV001205569	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2022-09-27	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 305 of the POMT1 protein (p.Ser305Arg). This variant is present in population databases (rs747506380, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 286908). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic	RCV000712829	SCV001714925	uncertain significance	not provided	2019-05-20	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003454804	SCV004183518	uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	2023-09-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004021212	SCV005008717	likely benign	Inborn genetic diseases	2021-12-08	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.