ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser)

gnomAD frequency: 0.00001  dbSNP: rs1263094349
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525091 SCV000641611 likely benign Tuberous sclerosis 1 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316554 SCV000849887 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-04 criteria provided, single submitter clinical testing The p.N1008S variant (also known as c.3023A>G), located in coding exon 21 of the TSC1 gene, results from an A to G substitution at nucleotide position 3023. The asparagine at codon 1008 is replaced by serine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000525091 SCV002040217 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003476284 SCV004204416 uncertain significance Isolated focal cortical dysplasia type II 2023-10-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999215 SCV004816451 uncertain significance Tuberous sclerosis syndrome 2023-12-01 criteria provided, single submitter clinical testing

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