ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.716T>G (p.Leu239Arg)

dbSNP: rs1554424050
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530804 SCV000655202 uncertain significance Tumor predisposition syndrome 3 2020-01-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with a POT1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on POT1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with arginine at codon 239 of the POT1 protein (p.Leu239Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine.

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