ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.696T>A (p.Cys232Ter)

dbSNP: rs1556101523
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549262 SCV000636867 pathogenic Danon disease 2021-11-25 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: 463159). This variant has not been reported in the literature in individuals affected with LAMP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys232*) in the LAMP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMP2 are known to be pathogenic (PMID: 21415759).
Ambry Genetics RCV003159800 SCV003853685 pathogenic Cardiovascular phenotype 2023-01-03 criteria provided, single submitter clinical testing The p.C232* pathogenic mutation (also known as c.696T>A), located in coding exon 5 of the LAMP2 gene, results from a T to A substitution at nucleotide position 696. This changes the amino acid from a cysteine to a stop codon within coding exon 5. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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