ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1955dup (p.Met652fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002421603 SCV002718095 pathogenic Cardiovascular phenotype 2019-07-24 criteria provided, single submitter clinical testing The c.1955dupT pathogenic mutation, located in coding exon 13 of the LDLR gene, results from a duplication of T at nucleotide position 1955, causing a translational frameshift with a predicted alternate stop codon (p.M652Ifs*17). 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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