ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter)

gnomAD frequency: 0.00001  dbSNP: rs751589956
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075390 SCV001241012 likely pathogenic Retinal dystrophy 2018-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001386010 SCV001586083 pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg440*) in the TULP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TULP1 are known to be pathogenic (PMID: 8606774, 10549638, 15024725, 18055821). This variant is present in population databases (rs751589956, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of TULP1-related conditions (PMID: 26047050, 31054281, 33781268). ClinVar contains an entry for this variant (Variation ID: 866967). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001075390 SCV005072218 pathogenic Retinal dystrophy 2018-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036390 SCV005669147 pathogenic Retinitis pigmentosa 14; Leber congenital amaurosis 15 2024-04-02 criteria provided, single submitter clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001255932 SCV001432543 pathogenic Leber congenital amaurosis 15 no assertion criteria provided research

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