ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.343A>C (p.Ile115Leu) (rs755644182)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652198 SCV000774066 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 10 2018-02-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with leucine at codon 115 of the POT1 protein (p.Ile115Leu). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and leucine. This variant is present in population databases (rs755644182, ExAC 0.009%). This variant has not been reported in the literature in individuals with POT1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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