Submissions for variant NM_000452.3(SLC10A2):c.425C>T (p.Pro142Leu)

gnomAD frequency: 0.00082  dbSNP: rs117447044

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000592583	SCV000707316	uncertain significance	not provided	2018-01-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000592583	SCV003271868	likely benign	not provided	2025-01-22	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000592583	SCV004226468	uncertain significance	not provided	2023-06-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000592583	SCV005192206	uncertain significance	not provided		criteria provided, single submitter	not provided
GeneDx	RCV000592583	SCV005389525	uncertain significance	not provided	2024-03-25	criteria provided, single submitter	clinical testing	Identified in individuals with low levels of HDL-cholesterol or with reduced postprandial increase in plasma bile acid concentrations in published literature, however, additional clinical information was not provided (PMID: 28663304, 35460704); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35460704, 28663304, 30504769)
PreventionGenetics, part of Exact Sciences	RCV003905547	SCV004723912	likely benign	SLC10A2-related disorder	2021-03-21	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).