ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1309G>C (p.Ala437Pro)

gnomAD frequency: 0.00002  dbSNP: rs764967942
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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 RCV001010887 SCV001171143 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-16 criteria provided, single submitter clinical testing The p.A437P variant (also known as c.1309G>C), located in coding exon 12 of the TSC2 gene, results from a G to C substitution at nucleotide position 1309. The alanine at codon 437 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001062574 SCV001227385 benign Tuberous sclerosis 2 2023-12-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001062574 SCV002040601 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002223966 SCV002503526 uncertain significance not provided 2020-11-05 criteria provided, single submitter clinical testing

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