Submissions for variant NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn)

gnomAD frequency: 0.00129  dbSNP: rs145236923

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
University of Washington Department of Laboratory Medicine, University of Washington	RCV000210098	SCV000266172	uncertain significance	Hereditary cancer-predisposing syndrome	2015-11-20	criteria provided, single submitter	clinical testing
Invitae	RCV000229689	SCV000290792	likely benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000210098	SCV000673501	likely benign	Hereditary cancer-predisposing syndrome	2020-03-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000229689	SCV002010985	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000229689	SCV002047046	likely benign	not provided	2022-10-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937792	SCV004747886	likely benign	GALNT12-related condition	2020-07-14	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).
Molecular Oncology Laboratory, Hospital Clínico San Carlos	RCV000656380	SCV000579211	benign	Adenomatous polyposis coli, attenuated		no assertion criteria provided	research	No statistical differences in allelic frequencies between polyposis subjects and controls. No aberrant glycosylation patterns detected in adenomas of polyposis cases.