ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4463A>G (p.Asn1488Ser)

dbSNP: rs999699219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644143 SCV000765833 benign Tuberous sclerosis 2 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331187 SCV002638843 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-25 criteria provided, single submitter clinical testing The p.N1488S variant (also known as c.4463A>G), located in coding exon 33 of the TSC2 gene, results from an A to G substitution at nucleotide position 4463. The asparagine at codon 1488 is replaced by serine, an amino acid with highly similar properties. This amino acid position is not well 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.

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