ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1315G>A (p.Val439Met)

dbSNP: rs547000637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010929 SCV001171194 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-02 criteria provided, single submitter clinical testing The p.V439M variant (also known as c.1315G>A), located in coding exon 10 of the POT1 gene, results from a G to A substitution at nucleotide position 1315. The valine at codon 439 is replaced by methionine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001361176 SCV001557142 uncertain significance Tumor predisposition syndrome 3 2020-01-13 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with POT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with methionine at codon 439 of the POT1 protein (p.Val439Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine.

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