ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.283G>T (p.Gly95Cys) (rs797045168)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554275 SCV000655181 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 10 2017-02-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 95 of the POT1 protein (p.Gly95Cys). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to co-segregate with disease in a single family affected with glioma, but the segregation was considered incomplete because three unaffected individuals also carry this variant (PMID: 25482530). ClinVar contains an entry for this variant (Variation ID: 209093). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is reported in both affected and unaffected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000191032 SCV000246012 risk factor Glioma susceptibility 9 2014-12-07 no assertion criteria provided literature only

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