ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.243G>T (p.Glu81Asp)

gnomAD frequency: 0.00001  dbSNP: rs1199982756
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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 RCV002029054 SCV002297476 uncertain significance Saldino-Mainzer syndrome 2021-11-30 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with IFT140-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 81 of the IFT140 protein (p.Glu81Asp).
Fulgent Genetics, Fulgent Genetics RCV005017062 SCV005645317 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-05-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753470 SCV005350376 uncertain significance IFT140-related disorder 2024-07-20 no assertion criteria provided clinical testing The IFT140 c.243G>T variant is predicted to result in the amino acid substitution p.Glu81Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% 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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