ClinVar Miner

Submissions for variant NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly)

gnomAD frequency: 0.00001  dbSNP: rs200705429
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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 RCV000549752 SCV000652765 uncertain significance Orofacial-digital syndrome IV; Joubert syndrome 18 2022-04-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 424 of the TCTN3 protein (p.Val424Gly). This variant is present in population databases (rs200705429, gnomAD 0.004%). 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: 473271). 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. 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.
Ambry Genetics RCV002530213 SCV003712906 uncertain significance Inborn genetic diseases 2022-10-06 criteria provided, single submitter clinical testing The c.1271T>G (p.V424G) alteration is located in exon 11 (coding exon 11) of the TCTN3 gene. This alteration results from a T to G substitution at nucleotide position 1271, causing the valine (V) at amino acid position 424 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000549752 SCV005678462 uncertain significance Orofacial-digital syndrome IV; Joubert syndrome 18 2023-12-27 criteria provided, single submitter clinical testing

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