ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1686+4A>G

dbSNP: rs907669138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539955 SCV000655157 uncertain significance Tumor predisposition syndrome 3 2022-04-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 475056). 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. Variants that disrupt 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. This variant has been observed in individual(s) with melanoma (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 17 of the POT1 gene. It does not directly change the encoded amino acid sequence of the POT1 protein. It affects a nucleotide within the consensus splice site.
Ambry Genetics RCV002404556 SCV002710700 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-12 criteria provided, single submitter clinical testing The c.1686+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 13 in the POT1 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003153728 SCV003842706 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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