ClinVar Miner

Submissions for variant NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter)

gnomAD frequency: 0.00001  dbSNP: rs762771340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760916 SCV000890812 pathogenic not provided 2018-12-24 criteria provided, single submitter clinical testing The Q315X variant in the KIAA0753 gene has been reported previously in the compound heterozygous state with another KIAA0753 variant in a fetus with short-rib thoracic dysplasia (Hammarsjo et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. unction either through protein truncation or nonsense-mediated mRNA decay. The Q315X variant is observed in 6/126332 (0.0047%) alleles from individuals of European (non-Finnish) background in large population cohorts, and no individuals were reported to be homozygous (Lek et al., 2016). We interpret Q315X as a pathogenic variant.
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000590971 SCV000580666 pathogenic Jeune thoracic dystrophy; Familial aplasia of the vermis 2017-06-21 no assertion criteria provided research
OMIM RCV001559336 SCV001781545 pathogenic Short-rib thoracic dysplasia 21 without polydactyly 2021-10-07 no assertion criteria provided literature only

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