ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1255T>A (p.Tyr419Asn)

dbSNP: rs773811344
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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 RCV001926024 SCV002186786 uncertain significance Tumor predisposition syndrome 3 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with asparagine at codon 419 of the POT1 protein (p.Tyr419Asn). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with POT1-related conditions. 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. 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.
Ambry Genetics RCV004945791 SCV005481349 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-24 criteria provided, single submitter clinical testing The p.Y419N variant (also known as c.1255T>A), located in coding exon 10 of the POT1 gene, results from a T to A substitution at nucleotide position 1255. The tyrosine at codon 419 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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