ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.280C>G (p.Gln94Glu)

gnomAD frequency: 0.00001  dbSNP: rs587777474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000128422 SCV001219306 uncertain significance Tumor predisposition syndrome 3 2023-03-15 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects POT1 function (PMID: 24686849). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt POT1 protein function. ClinVar contains an entry for this variant (Variation ID: 139522). This missense change has been observed in individual(s) with melanoma (PMID: 24686849). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 94 of the POT1 protein (p.Gln94Glu).
OMIM RCV000128422 SCV000172100 pathogenic Tumor predisposition syndrome 3 2014-05-01 no assertion criteria provided literature only

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