ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.268A>G (p.Lys90Glu) (rs1554427012)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524553 SCV000655179 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 10 2017-08-07 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 90 of the POT1 protein (p.Lys90Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POT1-related disease. Experimental evidence suggests that this variant shows telomere elongation and telomere fragility compared to wild-type POT1 protein(PMID: 27239034). 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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