ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val)

gnomAD frequency: 0.00002  dbSNP: rs369161842
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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 RCV001313552 SCV001504051 uncertain significance Saldino-Mainzer syndrome 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1224 of the IFT140 protein (p.Ala1224Val). This variant is present in population databases (rs369161842, gnomAD 0.007%). 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: 1014771). 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.
GeneDx RCV001751599 SCV001985887 uncertain significance not provided 2020-06-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002486222 SCV002788867 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-02-24 criteria provided, single submitter clinical testing

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