ClinVar Miner

Submissions for variant NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter)

gnomAD frequency: 0.00002  dbSNP: rs753018563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000302961 SCV000344762 likely pathogenic not provided 2016-08-11 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075670 SCV001241298 likely pathogenic Retinal dystrophy 2019-03-25 criteria provided, single submitter clinical testing
Invitae RCV000302961 SCV002220169 pathogenic not provided 2022-03-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg479*) 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). This variant is present in population databases (rs753018563, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TTLL5-related conditions. ClinVar contains an entry for this variant (Variation ID: 290244). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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