ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1751A>G (p.Asp584Gly)

dbSNP: rs2116407804
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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 RCV002031577 SCV002309178 uncertain significance Tumor predisposition syndrome 3 2021-10-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with POT1-related conditions. This sequence change replaces aspartic acid with glycine at codon 584 of the POT1 protein (p.Asp584Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). 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 tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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