ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1257del (p.Phe419fs)

dbSNP: rs942538351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001862463 SCV002247066 pathogenic Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe419Leufs*7) 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 premature translational stop signal has been observed in individual(s) with pulmonary fibrosis (PMID: 28414520). This variant is also known as c.1251delT. ClinVar contains an entry for this variant (Variation ID: 834007). For these reasons, this variant has been classified as Pathogenic.
University of Washington Center for Mendelian Genomics, University of Washington RCV001034549 SCV001197914 likely pathogenic Pulmonary fibrosis; Familial Interstitial Pneumonia no assertion criteria provided research

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