ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.217del (p.Ala73fs)

dbSNP: rs797044465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414144 SCV000491284 pathogenic not provided 2016-11-24 criteria provided, single submitter clinical testing The c.217delG variant in the KIF7 gene has been reported previously in the homozygous state in two related individuals with Joubert syndrome (Dafinger et al., 2011). This variant causes a frameshift starting with codon Alanine 73, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 109 of the new reading frame, denoted p.Ala73ProfsX109. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.217delG variant was not observed in approximately 2300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.217delG as a pathogenic variant.
OMIM RCV000023886 SCV000045177 pathogenic Joubert syndrome 12 2011-07-01 no assertion criteria provided literature only

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