ClinVar Miner

Submissions for variant NC_000014.9:g.(?_75757799)_(75766368_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001033651 SCV001196958 likely pathogenic not provided 2021-02-17 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Glu543 amino acid residue in TTLL5. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 28173158, 24791901,28173158). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been observed in individual(s) with clinical features of inherited retinal dystropy (Invitae). This variant is a gross deletion of the genomic region encompassing exon(s) 19-20 of the TTLL5 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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