ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.823A>G (p.Ile275Val)

dbSNP: rs1584765612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813990 SCV000954377 uncertain significance Tumor predisposition syndrome 3 2018-09-20 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with POT1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 275 of the POT1 protein (p.Ile275Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.
Ambry Genetics RCV002406844 SCV002676088 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-27 criteria provided, single submitter clinical testing The p.I275V variant (also known as c.823A>G), located in coding exon 6 of the POT1 gene, results from an A to G substitution at nucleotide position 823. The isoleucine at codon 275 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003117605 SCV003798805 uncertain significance not provided 2023-01-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28393830)

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