ClinVar Miner

Submissions for variant NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)

gnomAD frequency: 0.00002  dbSNP: rs746068882
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000984622 SCV000924632 pathogenic Jeune thoracic dystrophy 2019-06-08 criteria provided, single submitter clinical testing The p.Arg324* variant in KIAA0753 has been reported in homozygous state in two other families with autosomal recessive inheritance (Hammarsjö 2017) with SRTD and Joubert features. Disease-causing variants in the gene has been reported to cause SRTD/OFD/JBTS (Firat-Karalar 2014, Chevrier 2016, Hammarsjo 2017) and loss of cilia function. In summary, the p.Arg324* variant meets our criteria to be classified as pathogenic.
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269779 SCV001450034 pathogenic not provided 2018-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001269779 SCV001767409 pathogenic not provided 2020-07-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29138412, 31816441)
Revvity Omics, Revvity RCV001269779 SCV002016796 likely pathogenic not provided 2020-04-13 criteria provided, single submitter clinical testing
Mendelics RCV002248721 SCV002516620 pathogenic Orofaciodigital syndrome XV 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001269779 SCV004296481 pathogenic not provided 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg324*) in the KIAA0753 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIAA0753 are known to be pathogenic (PMID: 29138412). This variant is present in population databases (rs746068882, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with clinical features of KIAA0753-related conditions (PMID: 29138412, 34529350). ClinVar contains an entry for this variant (Variation ID: 428613). For these reasons, this variant has been classified as Pathogenic.
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000590973 SCV000579488 pathogenic Jeune thoracic dystrophy; Familial aplasia of the vermis 2017-06-21 no assertion criteria provided research Three patients from two families homozygous for this nonsense variant.
OMIM RCV001559335 SCV001781544 pathogenic Short-rib thoracic dysplasia 21 without polydactyly 2021-10-07 no assertion criteria provided literature only

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