ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1864T>C (p.Tyr622His) (rs188854542)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652221 SCV000774089 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 10 2017-12-12 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 622 of the POT1 protein (p.Tyr622His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs188854542, ExAC 0.02%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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