ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.375G>C (p.Lys125Asn)

gnomAD frequency: 0.00001  dbSNP: rs778928295
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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 RCV000561673 SCV000675721 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-11 criteria provided, single submitter clinical testing The p.K125N variant (also known as c.375G>C), located in coding exon 4 of the TSC2 gene, results from a G to C substitution at nucleotide position 375. The lysine at codon 125 is replaced by asparagine, 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 tolerated 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 RCV001295259 SCV001484174 benign Tuberous sclerosis 2 2023-06-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001295259 SCV002040544 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000561673 SCV002533448 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-10 criteria provided, single submitter curation

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