ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter)

dbSNP: rs2077524952
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256971 SCV001433514 likely pathogenic not provided 2019-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411918 SCV002719787 pathogenic Cardiovascular phenotype 2022-09-30 criteria provided, single submitter clinical testing The p.L641* pathogenic mutation (also known as c.1922T>A), located in coding exon 13 of the LDLR gene, results from a T to A substitution at nucleotide position 1922. This changes the amino acid from a leucine to a stop codon within coding exon 13. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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