ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.178-3C>T

gnomAD frequency: 0.00001  dbSNP: rs1394966197
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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 RCV005225211 SCV005867246 uncertain significance Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2025-01-25 criteria provided, single submitter clinical testing This sequence change falls in intron 3 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individual(s) with familial interstitial pneumonia (PMID: 8414520). ClinVar contains an entry for this variant (Variation ID: 834031). 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 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.
University of Washington Center for Mendelian Genomics, University of Washington RCV001034576 SCV001197941 uncertain significance Pulmonary fibrosis; Familial Interstitial Pneumonia no assertion criteria provided research

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