ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.3177C>G (p.Phe1059Leu) (rs753263747)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468565 SCV000552270 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018981 SCV001180281 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-29 criteria provided, single submitter clinical testing The p.F1059L variant (also known as c.3177C>G), located in coding exon 21 of the TSC1 gene, results from a C to G substitution at nucleotide position 3177. The phenylalanine at codon 1059 is replaced by leucine, an amino acid with highly similar properties. This alteration was detected in 1/174 Chinese patients with tuberous sclerosis complex (Ding Y et al. Front Genet, 2020 Mar;11:204). 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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