ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.94G>A (p.Glu32Lys)

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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 RCV005006335 SCV005637614 uncertain significance Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 2024-05-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003899218 SCV004714374 uncertain significance TTC8-related disorder 2023-12-01 no assertion criteria provided clinical testing The TTC8 c.94G>A variant is predicted to result in the amino acid substitution p.Glu32Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino 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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