Submissions for variant NM_020778.5(ALPK3):c.3401C>T (p.Ala1134Val)

gnomAD frequency: 0.00056  dbSNP: rs139666355

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000893713	SCV000715098	likely benign	not provided	2022-06-24	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000893713	SCV001037666	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002377248	SCV002625368	likely benign	Cardiovascular phenotype	2019-03-21	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.
CeGaT Center for Human Genetics Tuebingen	RCV000893713	SCV004701477	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	ALPK3: BP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000613100	SCV005204797	uncertain significance	not specified	2024-06-17	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000893713	SCV005213347	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000613100	SCV001921270	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000893713	SCV001969994	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530746	SCV004754454	likely benign	ALPK3-related disorder	2020-10-02	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).