ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.1309C>G (p.Leu437Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005006542 SCV005637677 uncertain significance Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 2024-02-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004746906 SCV005366001 uncertain significance TTC8-related disorder 2024-01-03 no assertion criteria provided clinical testing The TTC8 c.1309C>G variant is predicted to result in the amino acid substitution p.Leu437Val. 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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