ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1006-11G>A

gnomAD frequency: 0.00007  dbSNP: rs746114163
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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 RCV001862465 SCV002216075 uncertain significance Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-10-09 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the PARN gene. It does not directly change the encoded amino acid sequence of the PARN protein. This variant is present in population databases (rs746114163, gnomAD 0.008%). This variant has been observed in individual(s) with pulmonary fibrosis (PMID: 28414520). ClinVar contains an entry for this variant (Variation ID: 834034). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001862465 SCV002803874 uncertain significance Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2022-05-03 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001034580 SCV001197945 uncertain significance Pulmonary fibrosis; Familial Interstitial Pneumonia no assertion criteria provided research

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