ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.581del (p.Ser194fs)

gnomAD frequency: 0.00001  dbSNP: rs2077276693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227765 SCV001400136 pathogenic Familial hypercholesterolemia 2023-04-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 955172). This variant has not been reported in the literature in individuals affected with LDLR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser194Ilefs*12) in the LDLR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073).
Ambry Genetics RCV002356967 SCV002649773 pathogenic Cardiovascular phenotype 2021-09-01 criteria provided, single submitter clinical testing The c.581delG pathogenic mutation, located in coding exon 4 of the LDLR gene, results from a deletion of one nucleotide at nucleotide position 581, causing a translational frameshift with a predicted alternate stop codon (p.S194Ifs*12). 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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