ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.913A>G (p.Met305Val)

gnomAD frequency: 0.00006  dbSNP: rs143237548
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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 RCV001932958 SCV002197150 uncertain significance Bardet-Biedl syndrome 2021-11-20 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 295 of the TTC8 protein (p.Met295Val). This variant is present in population databases (rs143237548, gnomAD 0.008%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV002479398 SCV002782702 uncertain significance Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 2021-12-01 criteria provided, single submitter clinical testing

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