ClinVar Miner

Submissions for variant NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter)

gnomAD frequency: 0.00008  dbSNP: rs200335504
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000755722 SCV000883205 likely pathogenic Short-rib thoracic dysplasia 19 with or without polydactyly 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Short-rib thoracic dysplasia 19 with or without polydactyly, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS3 => Well-established functional studies show a deleterious effect (https://www.ncbi.nlm.nih.gov/pubmed/27666822). PVS1-Moderate => PVS1 downgraded in strength to Moderate.
Revvity Omics, Revvity RCV000755722 SCV002016694 likely pathogenic Short-rib thoracic dysplasia 19 with or without polydactyly 2023-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860115 SCV002228983 pathogenic not provided 2024-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg512*) in the IFT81 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT81 are known to be pathogenic (PMID: 26275418, 27666822). This variant is present in population databases (rs200335504, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of short-rib thoracic dystrophy (PMID: 27666822). ClinVar contains an entry for this variant (Variation ID: 495121). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817788 SCV005071737 pathogenic Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing
OMIM RCV000585764 SCV000693688 pathogenic SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY 2021-10-08 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000755163 SCV000882985 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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