ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1630A>G (p.Met544Val) (rs762424988)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561531 SCV000674405 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000687246 SCV000814803 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 10 2018-05-11 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 544 of the POT1 protein (p.Met544Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs762424988, ExAC 0.006%). This variant has not been reported in the literature in individuals with POT1-related disease. ClinVar contains an entry for this variant (Variation ID: 486136). 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: "Benign"; 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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