ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1572G>T (p.Trp524Cys)

dbSNP: rs1794703569
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221737 SCV001393799 uncertain significance Tumor predisposition syndrome 3 2019-07-02 criteria provided, single submitter clinical testing 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, 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. This variant has not been reported in the literature in individuals with POT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with cysteine at codon 524 of the POT1 protein (p.Trp524Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine.

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