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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