ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.715G>C (p.Gly239Arg)

dbSNP: rs374351698
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234358 SCV001406998 uncertain significance Bardet-Biedl syndrome 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 229 of the TTC8 protein (p.Gly229Arg). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TTC8 protein function. ClinVar contains an entry for this variant (Variation ID: 960774). This variant has not been reported in the literature in individuals affected with TTC8-related conditions. This variant is not present in population databases (gnomAD no frequency).

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