ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.3G>A (p.Met1Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003746987 SCV004412460 pathogenic Tumor predisposition syndrome 3 2022-11-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the POT1 protein in which other variant(s) (p.Arg117Cys) have been determined to be pathogenic (PMID: 26403419; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with POT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the POT1 mRNA. The next in-frame methionine is located at codon 132.

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