ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3712G>A (p.Ala1238Thr)

dbSNP: rs376953801
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765102 SCV001989694 uncertain significance not provided 2019-08-27 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001882849 SCV002182178 uncertain significance Saldino-Mainzer syndrome 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1238 of the IFT140 protein (p.Ala1238Thr). This variant is present in population databases (rs376953801, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. ClinVar contains an entry for this variant (Variation ID: 1304866). 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"). 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 RCV005006013 SCV005642714 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-04-04 criteria provided, single submitter clinical testing

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