ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2287C>T (p.His763Tyr)

gnomAD frequency: 0.00001  dbSNP: rs758234726
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003153465 SCV000243563 uncertain significance not provided 2023-03-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000814544 SCV000954957 benign Tuberous sclerosis 2 2023-05-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000814544 SCV002039635 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444770 SCV002736292 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-01 criteria provided, single submitter clinical testing The p.H763Y variant (also known as c.2287C>T), located in coding exon 20 of the TSC2 gene, results from a C to T substitution at nucleotide position 2287. The histidine at codon 763 is replaced by tyrosine, an amino acid with 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.

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