ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1396C>G (p.Leu466Val)

dbSNP: rs958828560
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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 RCV002033019 SCV002115099 uncertain significance Tumor predisposition syndrome 3 2021-09-15 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with POT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 466 of the POT1 protein (p.Leu466Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.
Ambry Genetics RCV002388695 SCV002701690 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-14 criteria provided, single submitter clinical testing The p.L466V variant (also known as c.1396C>G), located in coding exon 11 of the POT1 gene, results from a C to G substitution at nucleotide position 1396. The leucine at codon 466 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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