ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.915del (p.Met305fs)

gnomAD frequency: 0.00001  dbSNP: rs1431207606
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196322 SCV001366913 likely pathogenic Retinitis pigmentosa 51 2019-08-22 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001863105 SCV002207296 pathogenic Bardet-Biedl syndrome 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met295Ilefs*15) in the TTC8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TTC8 are known to be pathogenic (PMID: 16308660, 16877420, 19797195, 21052717, 30886724). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 930561). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001196322 SCV004207454 likely pathogenic Retinitis pigmentosa 51 2023-07-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918771 SCV004732124 pathogenic TTC8-related disorder 2024-03-29 no assertion criteria provided clinical testing The TTC8 c.915delG variant is predicted to result in a frameshift and premature protein termination (p.Met305Ilefs*15). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (non-Finnish) descent in gnomAD. Frameshift variants in TTC8 are expected to be pathogenic. This variant is interpreted as pathogenic.

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