ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1123C>T (p.Gln375Ter)

dbSNP: rs1380270401
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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 RCV002007342 SCV002227708 pathogenic Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2022-07-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1451667). This sequence change creates a premature translational stop signal (p.Gln375*) in the PARN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PARN are known to be pathogenic (PMID: 9736620, 25848748, 26810774). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PARN-related conditions. For these reasons, this variant has been classified as Pathogenic.

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