ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) (rs145478892)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000403561 SCV000376272 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000545652 SCV000634602 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2017-09-20 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 100 of the TCTN1 protein (p.Val100Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs145478892, ExAC 0.2%). This variant has not been reported in the literature in individuals with TCTN1-related disease. ClinVar contains an entry for this variant (Variation ID: 257400). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
PreventionGenetics RCV000250228 SCV000306468 likely benign not specified criteria provided, single submitter clinical testing

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