ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.370T>C (p.Phe124Leu)

dbSNP: rs547231441
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802848 SCV000942694 uncertain significance Tuberous sclerosis 2 2020-01-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TSC2-related disease. This variant is present in population databases (rs547231441, ExAC 0.009%). This sequence change replaces phenylalanine with leucine at codon 124 of the TSC2 protein (p.Phe124Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.
Ambry Genetics RCV001020948 SCV001182496 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-31 criteria provided, single submitter clinical testing The p.F124L variant (also known as c.370T>C), located in coding exon 4 of the TSC2 gene, results from a T to C substitution at nucleotide position 370. The phenylalanine at codon 124 is replaced by leucine, 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.
Genome-Nilou Lab RCV000802848 SCV002040543 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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