ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.797G>T (p.Gly266Val) (rs150480343)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723697 SCV000111986 uncertain significance not provided 2016-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000723697 SCV000577326 uncertain significance not provided 2017-04-04 criteria provided, single submitter clinical testing The G266V variant in the TULP1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G266V variant is observed in 86/66740 (0.13%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The G266V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G266V as a variant of uncertain significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723697 SCV001154734 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Invitae RCV000723697 SCV001234669 uncertain significance not provided 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 266 of the TULP1 protein (p.Gly266Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs150480343, ExAC 0.1%). This variant has not been reported in the literature in individuals with TULP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 94128). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,Illumina RCV001153677 SCV001314978 uncertain significance Leber congenital amaurosis 15 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001153678 SCV001314979 uncertain significance Retinitis pigmentosa 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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