ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.355A>G (p.Ile119Val)

gnomAD frequency: 0.00001  dbSNP: rs1188208020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074472 SCV001240057 uncertain significance Retinal dystrophy 2017-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001201722 SCV001372808 uncertain significance Bardet-Biedl syndrome 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 109 of the TTC8 protein (p.Ile109Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TTC8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
PreventionGenetics, part of Exact Sciences RCV004746232 SCV005346172 uncertain significance TTC8-related disorder 2024-04-18 no assertion criteria provided clinical testing The TTC8 c.355A>G variant is predicted to result in the amino acid substitution p.Ile119Val. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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