ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4417A>C (p.Lys1473Gln)

dbSNP: rs397515136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003298100 SCV003998623 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-18 criteria provided, single submitter clinical testing The p.K1473Q variant (also known as c.4417A>C), located in coding exon 33 of the TSC2 gene, results from an A to C substitution at nucleotide position 4417. The lysine at codon 1473 is replaced by glutamine, an amino acid with 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.
Fulgent Genetics, Fulgent Genetics RCV005007984 SCV005638922 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2024-02-02 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055399 SCV000083620 not provided Tuberous sclerosis syndrome no assertion provided curation

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