Submissions for variant NM_024642.5(GALNT12):c.719C>T (p.Pro240Leu)

gnomAD frequency: 0.00030  dbSNP: rs59362219

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463956	SCV000551406	benign	not provided	2025-01-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004022800	SCV000673515	likely benign	not specified	2020-03-03	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.
ACT Genomics,	RCV001265633	SCV001443777	likely benign	Breast neoplasm	2020-11-06	criteria provided, single submitter	clinical testing	The allele frequency of this variant c.719C>T (p.Pro240Leu) is 0.0083 in East Asian of gnomAD and 0.011 in East Asian in 1000 Genomes. For the reason, this variant has been classified as Likely Benign.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005398633	SCV006056707	uncertain significance	Colorectal cancer, susceptibility to, 1	2022-02-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003970287	SCV004788198	benign	GALNT12-related disorder	2020-05-15	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).