ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs367882846
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Total submissions: 5
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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
Invitae 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
Natera, Inc. RCV001177601 SCV002086878 likely benign Familial hypercholesterolemia 2020-03-09 no assertion criteria provided clinical testing

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