ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.980A>G (p.Glu327Gly)

gnomAD frequency: 0.00003  dbSNP: rs749721461
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303406 SCV001492649 uncertain significance Bardet-Biedl syndrome 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 317 of the TTC8 protein (p.Glu317Gly). This variant is present in population databases (rs749721461, gnomAD 0.004%). 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: 1006376). 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. 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 RCV002476403 SCV002794098 uncertain significance Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 2024-05-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692453 SCV005193940 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004746309 SCV005363338 uncertain significance TTC8-related disorder 2024-09-04 no assertion criteria provided clinical testing The TTC8 c.980A>G variant is predicted to result in the amino acid substitution p.Glu327Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0039% 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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