ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.798T>A (p.His266Gln)

dbSNP: rs1554424006
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652219 SCV000774087 uncertain significance Tumor predisposition syndrome 3 2019-11-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with POT1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with glutamine at codon 266 of the POT1 protein (p.His266Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies.

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