ClinVar Miner

Submissions for variant NM_015202.5(KATNIP):c.700A>G (p.Ser234Gly)

dbSNP: rs2142761867
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839327 SCV002099324 uncertain significance Joubert syndrome 26 2021-07-07 criteria provided, single submitter clinical testing The c.700A>G (p.Ser234Gly) inherited variant in exon 7 of 28 of KATNIP has not been reported in affected individuals in the available literature. This variantis absent in gnomAD v3 indicating it is not a common benign variant in the populations represented in this database. In silico predictors suggest this variant is Benign(REVEL score: 0.036) and Damaging (SIFT score: 0.038). Given the current evidence regarding its pathogenicity, the c.700A>G (p.Ser234Gly) variant identified in theKATNIP gene is classified as a Variant of uncertain significance.

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