ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.620+5G>A

dbSNP: rs1971361795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005213449 SCV005859361 likely pathogenic Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-03-13 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the PARN gene. It does not directly change the encoded amino acid sequence of the PARN protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with interstitial lung disease (PMID: 28414520). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 834005). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
University of Washington Center for Mendelian Genomics, University of Washington RCV001034547 SCV001197912 likely pathogenic Pulmonary fibrosis; Familial Interstitial Pneumonia no assertion criteria provided research
Undiagnosed Diseases Network, NIH RCV003992433 SCV004812027 likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-12-08 no assertion criteria provided clinical testing

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