ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.784-170_840+174del

dbSNP: rs1970760757
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Godley laboratory, The University of Chicago RCV001249471 SCV001252727 likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2020-05-18 criteria provided, single submitter clinical testing This heterozygous deletion of exon 12 of PARN was found in germline in a patient with unclassifiable ILD diagnosed at age 56. The patient also displayed other phenotypic features such as intermittent thrombocytopenia and GERD with a small hiatal hernia. The telomere length was below the 1st percentile in lymphocytes. The following ACMG/AMP criteria were used: PVS1_strong, PS4_supporting, PM2.

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