ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)

gnomAD frequency: 0.00006  dbSNP: rs759112760
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206292 SCV001377593 uncertain significance Bardet-Biedl syndrome 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 2 of the TTC8 protein (p.Ser2Gly). This variant is present in population databases (rs759112760, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TTC8-related conditions. ClinVar contains an entry for this variant (Variation ID: 937310). 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 glycine 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.
Fulgent Genetics, Fulgent Genetics RCV002497706 SCV002794068 uncertain significance Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 2022-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561222 SCV003753795 likely benign Inborn genetic diseases 2021-09-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003405389 SCV004115944 uncertain significance TTC8-related condition 2024-01-18 criteria provided, single submitter clinical testing The TTC8 c.4A>G variant is predicted to result in the amino acid substitution p.Ser2Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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