ClinVar Miner

Submissions for variant NM_015072.5(TTLL5):c.3344dup (p.Phe1116fs)

dbSNP: rs2139945350
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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 RCV001953664 SCV002242789 pathogenic not provided 2022-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TTLL5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe1116Ilefs*41) in the TTLL5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TTLL5 are known to be pathogenic (PMID: 24791901, 27162334).

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