ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1959dup (p.Gln654fs)

dbSNP: rs118203603
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000201178 SCV000255853 pathogenic Tuberous sclerosis 1 2012-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000201178 SCV000965513 pathogenic Tuberous sclerosis 1 2021-01-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). This variant has been observed in individuals affected with tuberous sclerosis complex (PMID: 16981987) and in the Leiden Open-source Variation Database (PMID: 21520333). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln654Thrfs*34) in the TSC1 gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV000201178 SCV002040919 pathogenic Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000201178 SCV002581570 pathogenic Tuberous sclerosis 1 2022-03-16 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000201178 SCV005417359 pathogenic Tuberous sclerosis 1 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PS4_Supporting+PP4
Ambry Genetics RCV005298439 SCV005957516 pathogenic Hereditary cancer-predisposing syndrome 2025-02-27 criteria provided, single submitter clinical testing The c.1959dupA pathogenic mutation, located in coding exon 13 of the TSC1 gene, results from a duplication of A at nucleotide position 1959, causing a translational frameshift with a predicted alternate stop codon (p.Q654Tfs*34). 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.
Tuberous sclerosis database (TSC1) RCV000042108 SCV000065892 not provided Tuberous sclerosis syndrome no assertion provided curation

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