ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.180C>G (p.Tyr60Ter)

dbSNP: rs778376925
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492522 SCV000580889 pathogenic Hereditary cancer-predisposing syndrome 2020-11-18 criteria provided, single submitter clinical testing The p.Y60* pathogenic mutation (also known as c.180C>G) located in coding exon 1 of the STK11 gene, results from a C to G substitution at nucleotide position 180. This changes the amino acid from a tyrosine to a stop codon within coding exon 1. This mutation has been reported in numerous individuals/families with a clinical diagnosis of Peutz-Jeghers syndrome (Hemminki A et al. Nature.1998 Jan 8;391(6663):184-7; Olschwang S et al. J Med Genet. 2001 Jun;38(6):356-60; Lim W et al. Gastroenterology. 2004 Jun;126(7):1788-94; Dai L et al. Dig Dis Sci. 2014 Mar 7). In addition to the clinical data presented in the literature, 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.
Invitae RCV000540715 SCV000629097 pathogenic Peutz-Jeghers syndrome 2020-10-14 criteria provided, single submitter clinical testing This variant has been observed in several individuals affected with Peutz-Jeghers syndrome (PJS) (PMID: 9428765, 24604241, 11389158), and has been shown to segregate with PJS in one family (PMID: 17637250). ClinVar contains an entry for this variant (Variation ID: 428749). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr60*) in the STK11 gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV000540715 SCV002057353 pathogenic Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000540715 SCV003807297 pathogenic Peutz-Jeghers syndrome 2022-07-05 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 moderated, PP1 supporting
Myriad Genetics, Inc. RCV000540715 SCV004930615 pathogenic Peutz-Jeghers syndrome 2024-02-09 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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