Submissions for variant NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)

dbSNP: rs118203707

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000201118	SCV000255858	pathogenic	Tuberous sclerosis 1	2014-07-30	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000415443	SCV000493038	pathogenic	Seizure; Multiple renal cysts; Cortical tubers	2014-03-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000522266	SCV000617401	pathogenic	not provided	2023-01-30	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 14756965, 18032745, 15798777, 9924605, 17304050, 10227394, 10363127, 11112665, 31598950, 12015165, 29286531, 32211034)
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001198554	SCV001369534	pathogenic	Lymphangiomyomatosis	2016-01-01	criteria provided, single submitter	clinical testing	This variant was classified as: Pathogenic.
Invitae	RCV000201118	SCV001399362	pathogenic	Tuberous sclerosis 1	2023-12-19	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Asn837Valfs*11) in the TSC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis (PMID: 9924605, 29286531). This variant is also known as c.2729_2732delAAAC and c.2506_2509del. ClinVar contains an entry for this variant (Variation ID: 48971). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab	RCV000201118	SCV002040742	pathogenic	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000201118	SCV003806582	pathogenic	Tuberous sclerosis 1	2023-01-10	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Tuberous sclerosis database (TSC1)	RCV000042222	SCV000066007	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Tuberous sclerosis database (TSC1)	RCV000042222	SCV000066008	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	RCV000201118	SCV001370506	pathogenic	Tuberous sclerosis 1	2020-06-09	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000522266	SCV001807275	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000522266	SCV001974546	pathogenic	not provided		no assertion criteria provided	clinical testing