Submissions for variant NM_000527.5(LDLR):c.2397C>T (p.Leu799=)

gnomAD frequency: 0.00006  dbSNP: rs367882846

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001177601	SCV001341838	likely benign	Familial hypercholesterolemia	2019-01-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001177601	SCV001700381	likely benign	Familial hypercholesterolemia	2024-01-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003372903	SCV004098398	uncertain significance	Cardiovascular phenotype	2023-06-23	criteria provided, single submitter	clinical testing	The c.2397C>T variant (also known as p.L799L), located in coding exon 17 of the LDLR gene, results from a C to T substitution at nucleotide position 2397. This nucleotide substitution does not change the leucine at codon 799. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic	RCV003480889	SCV004224562	uncertain significance	not provided	2022-05-24	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004003103	SCV004820680	likely benign	Hypercholesterolemia, familial, 1	2023-12-18	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001177601	SCV002086878	likely benign	Familial hypercholesterolemia	2020-03-09	no assertion criteria provided	clinical testing