ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4534G>C (p.Asp1512His)

dbSNP: rs774441486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001212693 SCV001384286 benign Tuberous sclerosis 2 2023-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294027 SCV003998661 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-11 criteria provided, single submitter clinical testing The p.D1512H variant (also known as c.4534G>C), located in coding exon 34 of the TSC2 gene, results from a G to C substitution at nucleotide position 4534. The aspartic acid at codon 1512 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. 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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