ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4636G>A (p.Ala1546Thr)

gnomAD frequency: 0.00001  dbSNP: rs1332979299
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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 RCV001022821 SCV001184600 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-11 criteria provided, single submitter clinical testing The p.A1546T variant (also known as c.4636G>A), located in coding exon 35 of the TSC2 gene, results from a G to A substitution at nucleotide position 4636. The alanine at codon 1546 is replaced by threonine, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001066426 SCV001231435 benign Tuberous sclerosis 2 2023-10-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001066426 SCV002040841 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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