ClinVar Miner

Submissions for variant NM_006531.5(IFT88):c.1082dup (p.Asn361fs)

dbSNP: rs1594100988
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376433 SCV001573571 likely pathogenic Rod-cone dystrophy 2021-04-08 criteria provided, single submitter research The IFT88 c.1109dup variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Invitae RCV001871991 SCV002286024 uncertain significance not provided 2021-12-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1065744). This variant has not been reported in the literature in individuals affected with IFT88-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn370Lysfs*2) in the IFT88 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in IFT88 cause disease. 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.

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