ClinVar Miner

Submissions for variant NM_015631.6(TCTN3):c.970G>A (p.Val324Ile)

gnomAD frequency: 0.00006  dbSNP: rs769275482
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002045416 SCV002288736 uncertain significance Orofacial-digital syndrome IV; Joubert syndrome 18 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 324 of the TCTN3 protein (p.Val324Ile). This variant is present in population databases (rs769275482, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with TCTN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1503382). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002045416 SCV002812311 uncertain significance Orofacial-digital syndrome IV; Joubert syndrome 18 2021-08-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003138032 SCV003827157 uncertain significance not provided 2022-04-26 criteria provided, single submitter clinical testing

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