ClinVar Miner

Submissions for variant NM_017612.5(ZCCHC8):c.557C>T (p.Pro186Leu)

dbSNP: rs1317757765
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV004546569 SCV005042401 pathogenic not provided 2024-04-01 criteria provided, single submitter clinical testing ZCCHC8: PP1:Strong, PM2, PS3:Moderate, PS4:Moderate
OMIM RCV000856725 SCV000999269 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 2023-05-08 no assertion criteria provided literature only
Epi-/Genome lab, Department of Hematology, Rigshospitalet RCV000856725 SCV004697315 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 2024-02-20 no assertion criteria provided research In 3 members of a family with telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-5 (PFBMFT5; 618674), we identified a heterozygous c.557C>T p.(P186L) substitution. The variant segregated with affected family members. With Flow FISH we found short telomeres in 2 family members carrying the variant. The family history is similar to the variant reported by Gable et al. (2019) and the variant is identical. The mutation was identified with whole genome sequencing and confirmed with Sanger Sequencing.

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