ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.1550dup (p.Gln518fs)

dbSNP: rs2146654353
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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 RCV001903964 SCV002119503 pathogenic not provided 2022-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln518Alafs*7) in the PCNT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCNT are known to be pathogenic (PMID: 18174396, 22821869). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PCNT-related conditions. For these reasons, this variant has been classified as Pathogenic.

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