ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5144T>A (p.Met1715Lys)

dbSNP: rs758246234
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795940 SCV000935421 uncertain significance Tuberous sclerosis 2 2022-09-10 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TSC2 protein function. ClinVar contains an entry for this variant (Variation ID: 642467). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 1715 of the TSC2 protein (p.Met1715Lys).
Ambry Genetics RCV001023610 SCV001185515 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-20 criteria provided, single submitter clinical testing The p.M1715K variant (also known as c.5144T>A), located in coding exon 39 of the TSC2 gene, results from a T to A substitution at nucleotide position 5144. The methionine at codon 1715 is replaced by lysine, an amino acid with 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 RCV000795940 SCV002040873 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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