ClinVar Miner

Submissions for variant NM_015072.5(TTLL5):c.401del (p.Leu134fs)

dbSNP: rs587777470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002514702 SCV003442737 pathogenic not provided 2022-08-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 139514). This premature translational stop signal has been observed in individual(s) with retinal dystrophy (PMID: 24791901). This variant is present in population databases (rs587777470, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Leu134Argfs*45) 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).
OMIM RCV000128415 SCV000172092 pathogenic Cone-rod dystrophy 19 2014-05-01 no assertion criteria provided literature only

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