ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3719T>C (p.Val1240Ala)

gnomAD frequency: 0.00003  dbSNP: rs149521576
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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 RCV001950246 SCV002209346 uncertain significance Saldino-Mainzer syndrome 2021-04-29 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with IFT140-related conditions. This variant is present in population databases (rs149521576, ExAC 0.004%). This sequence change replaces valine with alanine at codon 1240 of the IFT140 protein (p.Val1240Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine.
Fulgent Genetics, Fulgent Genetics RCV002484704 SCV002786828 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2023-12-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753444 SCV005346302 uncertain significance IFT140-related disorder 2024-05-13 no assertion criteria provided clinical testing The IFT140 c.3719T>C variant is predicted to result in the amino acid substitution p.Val1240Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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