ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1A>G (p.Met1Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805147 SCV000945092 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 10 2018-10-01 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the POT1 mRNA. The next in-frame methionine is located at codon 132. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POT1-related disease. This variant at the initiator codon is expected to affect translation initiation. Rescue of translation at the next in-frame methionine at codon 132 is expected to disrupt the oligonucleotide binding 1 (OB1) domain, which facilitates binding to ssDNA critical for POT1 and TPP1 dimerization (PMID: 23502782, 25934589). However, functional studies have not been performed for this specific variant. 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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