ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.501G>C (p.Trp167Cys)

dbSNP: rs755728007
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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 RCV000547492 SCV000644595 likely benign Tuberous sclerosis 2 2024-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765259 SCV000896512 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000547492 SCV002040552 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341371 SCV002641447 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-20 criteria provided, single submitter clinical testing The p.W167C variant (also known as c.501G>C), located in coding exon 5 of the TSC2 gene, results from a G to C substitution at nucleotide position 501. The tryptophan at codon 167 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Baylor Genetics RCV003470759 SCV004206854 uncertain significance Isolated focal cortical dysplasia type II 2023-09-04 criteria provided, single submitter clinical testing

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