Submissions for variant NM_004064.5(CDKN1B):c.543C>G (p.Ala181=)

gnomAD frequency: 0.00064  dbSNP: rs140177202

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000556260	SCV000646224	benign	Multiple endocrine neoplasia type 4	2025-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001024106	SCV001186065	likely benign	Hereditary cancer-predisposing syndrome	2016-12-12	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.
Sema4, Sema4	RCV001024106	SCV002527684	benign	Hereditary cancer-predisposing syndrome	2021-07-01	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000556260	SCV004017038	benign	Multiple endocrine neoplasia type 4	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV005256633	SCV005910035	likely benign	not provided	2025-03-01	criteria provided, single submitter	clinical testing	CDKN1B: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003962538	SCV004783163	likely benign	CDKN1B-related disorder	2019-10-10	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).