ClinVar Miner

Submissions for variant NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu)

dbSNP: rs1566062590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001312319 SCV001502767 uncertain significance Orofacial-digital syndrome IV; Joubert syndrome 18 2020-03-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TCTN3-related conditions. This sequence change replaces valine with leucine at codon 581 of the TCTN3 protein (p.Val581Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine.

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