ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5363A>T (p.Tyr1788Phe)

dbSNP: rs397515221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003298101 SCV003998639 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-18 criteria provided, single submitter clinical testing The p.Y1788F variant (also known as c.5363A>T), located in coding exon 41 of the TSC2 gene, results from an A to T substitution at nucleotide position 5363. The tyrosine at codon 1788 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Tuberous sclerosis database (TSC2) RCV000055524 SCV000083747 not provided Tuberous sclerosis syndrome no assertion provided curation

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