ClinVar Miner

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

dbSNP: rs797045168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554275 SCV000655181 uncertain significance Tumor predisposition syndrome 3 2023-08-11 criteria provided, single submitter clinical testing 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. 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: 33782098). ClinVar contains an entry for this variant (Variation ID: 209093). This missense change has been observed in individual(s) with glioma (PMID: 25482530). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 95 of the POT1 protein (p.Gly95Cys).
OMIM RCV000554275 SCV000246012 pathogenic Tumor predisposition syndrome 3 2014-12-07 no assertion criteria provided literature only

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