ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8107C>T (p.Arg2703Ter)

dbSNP: rs758298374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001374751 SCV001439250 pathogenic Microcephalic osteodysplastic primordial dwarfism type II criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003770358 SCV004672743 pathogenic not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2703*) 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 present in population databases (rs758298374, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with microcephalic osteodysplastic primordial dwarfism (PMID: 35568357). ClinVar contains an entry for this variant (Variation ID: 982309). For these reasons, this variant has been classified as Pathogenic.

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