ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr)

dbSNP: rs777529733
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458532 SCV000544320 benign Tuberous sclerosis 2 2023-11-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000500804 SCV000597596 uncertain significance not specified 2015-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022474 SCV001184217 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-17 criteria provided, single submitter clinical testing The p.A1479T variant (also known as c.4435G>A), located in coding exon 33 of the TSC2 gene, results from a G to A substitution at nucleotide position 4435. The alanine at codon 1479 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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.
Genome-Nilou Lab RCV000458532 SCV002040196 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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