ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.255G>A (p.Lys85=) (rs747851551)

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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 RCV000569645 SCV000674421 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Last nucleotide of exon,Synonymous alterations with insufficient evidence to classify as benign,Insufficient evidence
Invitae RCV000820144 SCV000960842 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 10 2018-11-13 criteria provided, single submitter clinical testing This sequence change affects codon 85 of the POT1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the POT1 protein. This variant also falls at the last nucleotide of exon 7 of the POT1 coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs747851551, ExAC 0.002%). This variant has not been reported in the literature in individuals with POT1-related disease. ClinVar contains an entry for this variant (Variation ID: 486150). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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