ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) (rs201070350)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054314 SCV001218623 pathogenic not provided 2020-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln301*) in the TULP1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal recessive inherited retinal dystrophy (PMID: 18936139, 25342276). Loss-of-function variants in TULP1 are known to be pathogenic (PMID: 8606774, 10549638, 15024725, 18055821). For these reasons, this variant has been classified as Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV001251337 SCV001426900 pathogenic Leber congenital amaurosis 2020-07-02 criteria provided, single submitter clinical testing Variant summary: TULP1 c.901C>T (p.Gln301X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 249232 control chromosomes (gnomAD). c.901C>T has been reported in the compound heterozygous and homozygous state in numerous patients affected with Leber congenital amaurosis, Retinitis pigmentosa or Cone dystrophy (Li_2009, Abu-Safieh_2013, Khan_2015). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV001028029 SCV001190794 pathogenic Retinitis pigmentosa 14 2020-02-05 no assertion criteria provided clinical testing
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV001255925 SCV001432533 pathogenic Leber congenital amaurosis 15 no assertion criteria provided research

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