ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.43T>C (p.Phe15Leu)

gnomAD frequency: 0.00002  dbSNP: rs1379428942
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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 RCV001871485 SCV002148534 uncertain significance Bardet-Biedl syndrome 2024-11-04 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 15 of the TTC8 protein (p.Phe15Leu). This variant is not present in population databases (gnomAD no frequency). 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: 1385950). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TTC8 protein function with a negative predictive value of 80%. 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 RCV002478249 SCV002791877 uncertain significance Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 2021-09-21 criteria provided, single submitter clinical testing

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