ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1184G>A (p.Cys395Tyr)

dbSNP: rs1026632436
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811652 SCV000951928 benign Tuberous sclerosis 2 2024-07-01 criteria provided, single submitter clinical testing
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000811652 SCV001435082 uncertain significance Tuberous sclerosis 2 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000811652 SCV002040595 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336669 SCV002638692 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-26 criteria provided, single submitter clinical testing The p.C395Y variant (also known as c.1184G>A), located in coding exon 11 of the TSC2 gene, results from a G to A substitution at nucleotide position 1184. The cysteine at codon 395 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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