Submissions for variant NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)

gnomAD frequency: 0.00119  dbSNP: rs142485035

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000725700	SCV000196860	uncertain significance	not provided	2024-08-15	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24282183)
Eurofins Ntd Llc (ga)	RCV000725700	SCV000338697	uncertain significance	not provided	2017-04-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000763935	SCV000894880	uncertain significance	Muscle eye brain disease; Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Retinitis pigmentosa 76	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083649	SCV001016407	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000150000	SCV001475414	likely benign	not specified	2021-04-27	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001333960	SCV001526679	uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	2018-07-19	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic	RCV000725700	SCV002542163	uncertain significance	not provided	2021-10-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002514874	SCV003555791	likely benign	Inborn genetic diseases	2021-10-14	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	RCV000725700	SCV003811781	likely benign	not provided	2023-03-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004732704	SCV005361846	likely benign	POMGNT1-related disorder	2024-06-11	no assertion criteria provided	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).