ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1654G>A (p.Ala552Thr)

gnomAD frequency: 0.00001  dbSNP: rs777121421
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572824 SCV000675763 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-21 criteria provided, single submitter clinical testing The p.A552T variant (also known as c.1654G>A), located in coding exon 15 of the TSC2 gene, results from a G to A substitution at nucleotide position 1654. The alanine at codon 552 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000804218 SCV000944115 benign Tuberous sclerosis 2 2023-12-12 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509505 SCV001716252 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000804218 SCV002040626 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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