ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.1646_1648del (p.Leu549del) (rs431905497)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494110 SCV000581995 likely pathogenic not provided 2017-05-09 criteria provided, single submitter clinical testing The c.1646_1648delTAT variant in the IFT80 gene has been reported previously in the homozygous state in a stillborn with Jeune asphyxiating thoracic dystrophy (Beales et al., 2007). The c.1646_1648delTAT variant causes an in-frame deletion of codon Leucine 549, denoted p.Leu549del. The c.1646_1648delTAT variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1646_1648delTAT as a likely pathogenic variant.
OMIM RCV000001045 SCV000021195 pathogenic Asphyxiating thoracic dystrophy 2 2007-06-01 no assertion criteria provided literature only

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