ClinVar Miner

Submissions for variant NM_018474.6(KIZ):c.775C>T (p.Arg259Cys)

gnomAD frequency: 0.00002  dbSNP: rs763100442
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070127 SCV001235340 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 863212). This variant has not been reported in the literature in individuals affected with KIZ-related conditions. This variant is present in population databases (rs763100442, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 259 of the KIZ protein (p.Arg259Cys).
Dept Of Ophthalmology, Nagoya University RCV003890227 SCV004706997 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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