ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1030G>T (p.Glu344Ter)

dbSNP: rs951589289
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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 RCV001349796 SCV001544156 pathogenic Tumor predisposition syndrome 3 2021-08-03 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with melanoma (PMID: 30451293). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu344*) in the POT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POT1 are known to be pathogenic (PMID: 32155570). ClinVar contains an entry for this variant (Variation ID: 1045392). For these reasons, this variant has been classified as Pathogenic.

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